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Spondyloenchondrodysplasia: Clinical variability in three cases
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DSpace Makaleler
Dergi:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yayıncı:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yazar(lar) :
M ARAPOGLU , Savaş UNGUR , Beyhan Tuysuz
Konu :
Moleküler Biyoloji ve Genetik, Temel Bilimler, Dahili Tıp Bilimleri, Yaşam Bilimleri, Tıbbi Genetik, Sağlık Bilimleri, Tıp, Yaşam Bilimleri (LIFE), Moleküler Biyoloji ve Genetik, GENETİK VE HAYAT
Yıl :
2004
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yayıncı Web Sitesi
Kaydet Alıntıla
Spondyloenchondrodysplasia is a very rare skeletal dysplasia in which multiple enchondromata exist in the metaphyses of the long bones with platyspondyly. We present three patients (two of them are sibs) with spondyloenchondrodysplasia. The first patient was a 10-year-old boy, who had short stature and enchondromatous-like lesions in the metaphyses of the long bones and platyspondyly on radiography. His older sister (21-years old) had received growth hormone therapy 12 years earlier due to short stature, and her radiological findings were similar but milder than her brother. Both the sibs had normal intelligence and no calcification of the basal ganglia. The third patient was a 6-year-old boy who had short stature, mental retardation, enchondromatous-like lesions in the metaphyses of the long bones and platyspondyly. His cranial BT showed calcification of basal ganglia. The findings of the two sibs in the first family were compatible with spondyloenchondrodysplasia. The difference in clinical severity between the siblings shows the variability within the family. The third case with mental retardation and the presence of intracranial calcifications is compatible with spondyloenchondrodysplasia with basal ganglia calcification. In conclusion, we suggest that family screening and cranial imaging for the presence of intracranial calcifications should be considered in every patient with the diagnosis of spondyloenchondrodysplasia. (C) 2004 Wiley-Liss, Inc.
Anahtar Kelimeler : Moleküler Biyoloji ve Genetik, Temel Bilimler, Dahili Tıp Bilimleri, Yaşam Bilimleri, Tıbbi Genetik, Sağlık Bilimleri, Tıp, Yaşam Bilimleri (LIFE), Moleküler Biyoloji ve Genetik, GENETİK VE HAYAT, Makale

ISSN: 0148-7299
Sınıflandırma :
2
Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: Expanding the phenotypic spectrum of Rab27A mutations in humans
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Kaynak :
DSpace Makaleler
Dergi:
American Journal of Medical Genetics Part A
Yayıncı:
Wiley-Liss
Yazar(lar) :
Aksu G , Kutukculer N , Genel F , Vergin C , Omowaire B
Konu :
Griscelli syndrome, Elejalde syndrome, PAID syndrome, Rab27A, MYOVA, 15q21, slac2-amelanophylin
Yıl :
2003
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
Kaydet Alıntıla
We present an eleven-year-old female patient who was referred to us with silvery hair, hepatosplenomegaly, neutropenia-thrombocytopenia, hypogammaglobulinemia and degenerative white matter disease, with a family history of a female sibling dying at the age of five and two living male cousins, ages 10 and 11. She had been followed up for her cytopenia the last three years, and had totally recovered from a hemiplegic episode before admission. The family was of Arabic origin, and a second-degree consanguinity was reported between the parents. Microscopic analysis of her hair shafts revealed irregularly distributed small and large clumps of melanin, and skin biopsy findings were consistent with partial albinism. Bone marrow aspiration and biopsy did not detect any evidence of hemophagocytosis. Genetic analysis identified a homozygous two-base-plair deletion (51 del CT leading to S18X) in the Rab27A gene of the patient. She suffered from febrile neutropenic episodes. Her persistent cytopenia could not be corrected with immunoglobulin, thrombocyte infusions, or a short course of growth factor treatment. Splenectomy was planned due to her progressive splenic enlargement. She was also considered for bone marrow transplantation. She unfortunately died from an intracranial hemorrhage. Her clinical presentation was remarkable, mostly resembling partial albinism immunodeficiency/Elejalde syndrome due to her older age and absence of hemophagocytosis, but with molecular findings confirming Griscelli syndrome. (C) 2002 Wiley-Liss, Inc.
Anahtar Kelimeler : Griscelli syndrome, Elejalde syndrome, PAID syndrome, Rab27A, MYOVA, 15q21, slac2-amelanophylin, article
Cilt: 116A
Sayı: 4
ISSN: 0148-7299
Sınıflandırma :
3
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)
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Dergi Makalesi
Kaynak :
DSpace Makaleler
Dergi:
American Journal of Medical Genetics, Part A
Yayıncı:
Zonguldak Bülent Ecevit Üniversitesi
Yazar(lar) :
Zonguldak Bülent Ecevit Üniversitesi
Konu :
D-2-hydroxyglutaric acidura, Isocitrate dehydrogenase, Metaphyseal chondromatosis, Mosaicism, Somatic mutation, Whole-genome sequencing
Yıl :
2011
American Journal of Medical Genetics, Part A
Piri Tam Metin Bulucu
Kaydet Alıntıla
We used exome sequencing of blood DNA in four unrelated patients to identify the genetic basis of metaphyseal chondromatosis with urinary excretion of D-2-hydroxy-glutaric acid (MC-HGA), a rare entity comprising severe chondrodysplasia, organic aciduria, and variable cerebral involvement. No evidence for recessive mutations was found; instead, two patients showed mutations in IDH1 predicting p.R132H and p.R132S as apparent somatic mosaicism. Sanger sequencing confirmed the presence of the mutation in blood DNA in one patient, and in blood and saliva (but not in fibroblast) DNA in the other patient. Mutations at codon 132 of IDH1 change the enzymatic specificity of the cytoplasmic isocitrate dehydrogenase enzyme. They result in increased D-2-hydroxy-glutarate production, ?-ketoglutarate depletion, activation of HIF-1? (a key regulator of chondrocyte proliferation at the growth plate), and reduction of N-acetyl-aspartyl-glutamate level in glial cells. Thus, somatic mutations in IDH1 may explain all features of MC-HGA, including sporadic occurrence, metaphyseal disorganization, and chondromatosis, urinary excretion of D-2-hydroxy-glutaric acid, and reduced cerebral myelinization. © 2011 Wiley Periodicals, Inc.
DOI : 10.1002/ajmg.a.34325
Anahtar Kelimeler : D-2-hydroxyglutaric acidura, Isocitrate dehydrogenase, Metaphyseal chondromatosis, Mosaicism, Somatic mutation, Whole-genome sequencing, article
Cilt: 155
Sayı: 11
ISSN: 1552-4825
Sınıflandırma :
4
Characteristic dental pattern with hypodontia and short roots in Fraser syndrome
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Dergi Makalesi
Kaynak :
DSpace Makaleler
Dergi:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yayıncı:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yazar(lar) :
Angelika Stellzig-Eisenhauer , Yeliz Gueven , Denny Schanze , Agnes Bloch-Zupan , Martin Zenker , Felix Kunz , Hulya Kayserili , Alina Midro , Deepthi de Silva , Sriyani Basnayake , Jan Borys
Konu :
Moleküler Biyoloji ve Genetik, Temel Bilimler, Sağlık Bilimleri, Dahili Tıp Bilimleri, Tıbbi Genetik, Yaşam Bilimleri, Tıp, Yaşam Bilimleri (LIFE), Moleküler Biyoloji ve Genetik, GENETİK VE HAYAT
Yıl :
2020
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yayıncı Web Sitesi
Kaydet Alıntıla
Fraser syndrome (FS) is a rare autosomal recessive multiple congenital malformation syndrome characterized by cryptophthalmos, cutaneous syndactyly, renal agenesis, ambiguous genitalia, and laryngotracheal anomalies. It is caused by biallelic mutations of FRAS1, FREM2, and GRIP1 genes, encoding components of a protein complex that mediates embryonic epithelial-mesenchymal interactions. Anecdotal reports have described abnormal orodental findings in FS, but no study has as yet addressed the orodental findings of FS systematically. We reviewed dental radiographs of 10 unrelated patients with FS of different genetic etiologies. Dental anomalies were present in all patients with FS and included hypodontia, dental crowding, medial diastema, and retained teeth. A very consistent pattern of shortened dental roots of most permanent teeth as well as altered length/width ratio with shortened dental crowns of upper incisors was also identified. These findings suggest that the FRAS1-FREM complex mediates critical mesenchymal-epithelial interactions during dental crown and root development. The orodental findings of FS reported herein represent a previously underestimated manifestation of the disorder with significant impact on orodental health for affected individuals. Integration of dentists and orthodontists into the multidisciplinary team for management of FS is therefore recommended.
Anahtar Kelimeler : Moleküler Biyoloji ve Genetik, Temel Bilimler, Sağlık Bilimleri, Dahili Tıp Bilimleri, Tıbbi Genetik, Yaşam Bilimleri, Tıp, Yaşam Bilimleri (LIFE), Moleküler Biyoloji ve Genetik, GENETİK VE HAYAT, Makale

ISSN: 1552-4825
Sınıflandırma :
5
Bilateral renal dysplasia and situs inversus totalis in an infant girl
Araştırma Makalesi

Araştırma Makalesi
Kaynak :
DSpace Makaleler
Dergi:
American Journal of Medical Genetics Part A
Yayıncı:
Wiley-Liss
Yazar(lar) :
Mir S , Akil I
Yıl :
2003
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
Kaydet Alıntıla
Anahtar Kelimeler : letter
Cilt: 118A
Sayı: 1
ISSN: 0148-7299
Sınıflandırma :
6
Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome
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Kaynak :
DSpace Makaleler
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Sari Erkan , Bereket Abdullah , Yesilkaya Ediz , Bas Firdevs , Bundak Ruveyde , Aydin Banu Kucukemre , Darcan Sukran , Dundar Bumin , Buyukinan Muammer , Kara Cengiz , Adal Erdal , Akinci Aysehan , Atabek Mehmet Emre , Demirel Fatma , Celik Nurullah , Ozkan Behzat , Ozhan Bayram , Orbak Zerrin , Ersoy Betul , Dogan Murat , Atas Ali , Turan Serap , Goksen Damla , Tarim Omer , Yuksel Bilgin , Ercan Oya , Hatun Sukru , Simsek Enver , Okten Aysenur , Abaci Ayhan , Doneray Hakan , Ozbek Mehmet Nuri , Keskin Mehmet , Onal Hasan , Akyurek Nesibe , Bulan Kezban , Tepe Derya , Emeksiz Hamdi Cihan , Demir Korcan , Kizilay Deniz , Topaloglu Ali Kemal , Eren Erdal , Ozen Samim , Demirbilek Huseyin , Abali Saygin , Akin Leyla , Eklioglu Beray Selver , Kaba Sultan , Anik Ahmet , Bas Serpil , Unuvar Tolga , Saglam Halil , Bolu Semih , Ozgen Tolga , Dogan Durmus , Cakir Esra Deniz , Sen Yasar , Andiran Nesibe , Cizmecioglu Filiz , Evliyaoglu Olcay , Karaguzel Gulay , Pirgon Ozgur , Catli Gonul , Can Hatice Dilek , Gurbuz Fatih , Binay Cigdem , Bas Veysel Nijat , Fidanci Kursat , Gul Davut , Polat Adem , Acikel Cengizhan , Cinaz Peyami , Darendeliler Feyza
Konu :
anthropometry, karyotype, turner syndrome
Yıl :
2016
American Journal of Medical Genetics Part A
Kaydet Alıntıla
To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P<0.001). The mean birth length was 1.3cm shorter and mean birth weight was 0.36kg lower than that of the normal population. The mean age at diagnosis was 10.1 +/- 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1 +/- 1.7, -1.4 +/- 1.5, and 0.4 +/- 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P=0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups. (c) 2016 Wiley Periodicals, Inc.
Anahtar Kelimeler : anthropometry, karyotype, turner syndrome, article
Cilt: 170
Sayı: 4
ISSN: 1552-4825
7
Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: Four additional cases support a role of genetic modifiers in the manifestation of the phenotype
Araştırma Makalesi

Araştırma Makalesi
Kaynak :
DSpace Makaleler
Dergi:
American Journal of Medical Genetics, Part A
Yayıncı:
American Journal of Medical Genetics, Part A
Yazar(lar) :
S.S. Jamuar , H. Duzkale , N. Duzkale , C. Zhang , F.A. High , L. Kaban , A.E. Lin
Yıl :
2015
American Journal of Medical Genetics, Part A
Yayıncı Web Sitesi
Kaydet Alıntıla
Anahtar Kelimeler : letter

ISSN: 15524825
8
Türkiye'nin Doğal-Egzotik Ağaç ve Çalıları-II
Kitap Bölümü

Kitap Bölümü
Kaynak :
DSpace Makaleler
Dergi:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yayıncı:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yazar(lar) :
Dilek ORAL
Konu :
Yaşam Bilimleri, Temel Bilimler, Bitki ve Hayvan Bilimleri, Tarım ve Çevre Bilimleri (AGE)
Yıl :
2021
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yayıncı Web Sitesi
Kaydet Alıntıla
Anahtar Kelimeler : Yaşam Bilimleri, Temel Bilimler, Bitki ve Hayvan Bilimleri, Tarım ve Çevre Bilimleri (AGE), Kitapta Bölüm
Sınıflandırma :
9
Exclusion of Candidate Genes in Seven Turkish Families With Autosomal Recessive Amelogenesis Imperfecta
Dergi Makalesi

Dergi Makalesi
Kaynak :
DSpace Makaleler
Dergi:
American Journal of Medical Genetics Part A
Yayıncı:
Wiley-Liss
Yazar(lar) :
Becerik Sema , Cogulu Dilsah , Emingil Guelnur , Han Ted , Hart P. Suzanne , Hart Thomas C.
Konu :
autosomal recessive amelogenesis imperfecta, AMBN, AMELX, ENAM, FAM83H, KLK4, MMP20, TUFT1
Yıl :
2009
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
Kaydet Alıntıla
Amelogenesis imperfectas (AI) are a group of inherited defects of dental enamel formation that show both clinical and genetic heterogeneity. Seven Turkish families segregating autosomal recessive AI (ARAI) were evaluated for evidence of a genetic etiology of AI for the seven major candidate gene loci (AMBN, AMELX, ENAM, FAM83H, KLK4, MMP20, and TUFT1). Dental and periodontal characteristics of the affected members of these families were also described. The mean scores of DMFS and dfs indices were 9.7 and 9.6, respectively. The mean PPD was 2.2 min and the percentage of the sites with plaque and BOP were 87.8% and 72.4%, respectively. The exons and intron/exon junctions of the candidate genes were sequenced and no gene mutations were identified in any individuals. These findings support the existence of an additional gene(s) that are etiologic for ARAI in these families. (C) 2009 Wiley-Liss, Inc.
Anahtar Kelimeler : autosomal recessive amelogenesis imperfecta, AMBN, AMELX, ENAM, FAM83H, KLK4, MMP20, TUFT1, article
Cilt: 149A
Sayı: 7
ISSN: 1552-4825
Sınıflandırma :
10
A further family of Stromme syndrome carrying CENPF mutation
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Dergi Makalesi
Kaynak :
DSpace Makaleler
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Özkınay Ferda , Atik Tahir , Isik Esra , Gormez Zeliha , Sagiroglu Mahmut , Sahin Ozlem Atan , Corduk Nergul , Onay Huseyin
Konu :
centromere protein F, ciliopathy, exome, gene discovery, massively parallel sequencing, microcephaly, Stromme syndrome
Yıl :
2017
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
Kaydet Alıntıla
Stromme syndrome is a rare genetic disorder characterized by microcephaly, anterior ocular chamber anomalies, and "apple peel" type jejunal atresia. Here, we report a Stromme syndrome family with two affected siblings with a homozygous truncating frameshift mutation in CENPF. A 3-month-old girl was hospitalized due to prenatally diagnosed microcephaly, microphthalmia, and dysmorphological features. The history of a previous child with the same findings in addition to "apple peel" intestinal atresia had been noted. Regarding the clinical features of both affected siblings, a diagnosis of Stromme syndrome was established. Exome-sequencing of these two cases showed the homozygous mutation (c.5912_5913insA)/(p.T1974Nfs*9) in CENPF. While confirmation of this gene being responsible for Stromme syndrome was pending our results, Filges et al. reported that CENPF was indeed underlying the reason for Stromme syndrome. This is the second case report identifying CENPF mutation as the cause of Stromme syndrome.
Anahtar Kelimeler : centromere protein F, ciliopathy, exome, gene discovery, massively parallel sequencing, microcephaly, Stromme syndrome, article
Cilt: 173
Sayı: 6
ISSN: 1552-4825
Sınıflandırma :
11
Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegi
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Dergi Makalesi
Kaynak :
DSpace Makaleler
Dergi:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yazar(lar) :
Hande Kaymakcalan , Yanki Yarman , Nukte Goc , Fatih Toy , Cihan Meral , A. Gulhan Ercan-Sencicek , Murat Gunel
Konu :
compound heterozygous, GPT2, IDD, microcephaly, progressive motor symptoms
Yıl :
2018
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yayıncı Web Sitesi
 Piri Tam Metin Bulucu
Kaydet Alıntıla
We here describe novel compound heterozygous missense variants, NM_133443:c.[400C>T] and NM_133443:[1435G>A], in the glutamic-pyruvic transaminase 2 (GPT2) gene in a large consanguineous family with two affected siblings diagnosed with microcephaly intellectual disability and developmental delay (IDD). In addition to these clinical phenotypes, the male sibling has spastic paraplegia, and the female sibling has epilepsy. Their four extended family members have IDD and microcephaly. Both of these variants, c.400C>T (p.R134C) and c. 1435G>A (p.V479M), reside in the pyridoxal phosphate-dependent aminotransferase domain. The missense variants affect highly conserved amino acids and are classified to be disease-causing by meta-SVM. The candidate variants were not found in the Exome Aggregation Consortium (ExAC) dataset or in dbSNP. Both GPT2 variants have an allele frequency of 0% (0/ similar to 600) in the whole-exome sequenced Turkish cohort. Upon Sanger sequencing, we confirmed these mutations in all affected family members and showed that the index patient and his affected sister inherited one mutant allele from each unaffected parent. To the best of our knowledge, this is the first family in which a novel compound heterozygous variant in the GPT2 gene was identified.
DOI : 10.1002/ajmg.a.38558
Anahtar Kelimeler : compound heterozygous, GPT2, IDD, microcephaly, progressive motor symptoms, article
Cilt: 176
Sayı: 2
ISSN: 1552-4825
Sınıflandırma :
12
Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations
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Dergi Makalesi
Kaynak :
DSpace Makaleler
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Rosanne Sprute , Hannah Jergas , Akguen Oelmez , Salem Alawbathani , Hatice Karasoy , Hormos Salimi Dafsari , Sebahattin Cirak
Konu :
amyotrophic lateral sclerosis (ALS), familial ALS, infantile ascending hereditary spastic paraplegia (IAHSP), juvenile amyotrophic lateral sclerosis (JALS), linkage analysis, whole‐, exome sequencing
Yıl :
2020
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
Kaydet Alıntıla
Autosomal-recessive mutations in the Alsin Rho guanine nucleotide exchange factor (ALS2) gene may cause specific subtypes of childhood-onset progressive neurodegenerative motor neuron diseases (MND). These diseases can manifest with a clinical continuum from infantile ascending hereditary spastic paraplegia (IAHSP) to juvenile-onset forms with or without lower motor neuron involvement, the juvenile primary lateral sclerosis (JPLS) and the juvenile amyotrophic lateral sclerosis (JALS). We report 11 patients from seven unrelated Turkish and Yemeni families with clinical signs of IAHSP or JPLS. We performed haplotype analysis or next-generation panel sequencing followed by Sanger Sequencing to unravel the genetic disease cause. We described their clinical phenotype and analyzed the pathogenicity of the detected variants with bioinformatics tools. We further reviewed all previously reported cases with ALS2-related MND. We identified five novel homozygous pathogenic variants in ALS2 at various positions: c.275_276delAT (p.Tyr92CysfsTer11), c.1044C>G (p.Tyr348Ter), c.1718C>A (p.Ala573Glu), c.3161T>C (p.Leu1054Pro), and c.1471+1G>A (NM_020919.3, NP_065970.2). in our cohort, disease onset was in infancy or early childhood with rapid onset of motor neuron signs. Muscle weakness, spasticity, severe dysarthria, dysphagia, and facial weakness were common features in the first decade of life. Frameshift and nonsense mutations clustered in the N-terminal Alsin domains are most prevalent. We enriched the mutational spectrum of ALS2-related disorders with five novel pathogenic variants. Our study indicates a high detection rate of ALS2 mutations in patients with a clinically well-characterized early onset MND. Intrafamilial and even interfamilial diversity in patients with identical pathogenic variants suggest yet unknown modifiers for phenotypic expression.
Anahtar Kelimeler : amyotrophic lateral sclerosis (ALS), familial ALS, infantile ascending hereditary spastic paraplegia (IAHSP), juvenile amyotrophic lateral sclerosis (JALS), linkage analysis, whole‐, exome sequencing, article

ISSN: 1552-4825
13
Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey
Dergi Makalesi

Dergi Makalesi
Kaynak :
DSpace Makaleler
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Mustafa Kılıç , Ali Dursun , Turgay Coşkun , Ayşegül Tokatlı , Rıza K. Özgül , Didem Yücel Yılmaz , Mehmet Karaca , Deniz Doğru , Dursun Alehan , Sibel Kadayıfcılar , Aydan Genç , Handan Turan Dizdar , Burhanettin Gönüldas , Sema Savcı , Melda Sağlam , Cemalettin Aksoy , Umut Arslan , Hatice Serap Sivri
Konu :
Enzyme Replacement Therapy, Genotype, Mucopolysaccharidosis Type VI, Outcome
Yıl :
2017
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
Kaydet Alıntıla
Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder (LSD) characterized by a chronic, progressive course with multiorgan involvement. In our study, clinical, biochemical, molecular findings, and response to enzyme replacement therapy (ERT) for at least 6 months were evaluated in 20 patients with MPS VI. Treatment effects on clinical findings such as liver and spleen sizes, cardiac and respiratory parameters, visual and auditory changes, joints' range of motions, endurance tests and changes in urinary glycosaminoglycan excretions, before and after ERT were analyzed. ERT caused increased physical endurance and decreased urinary dermatan sulfate/chondroitin sulfate ratios. Changes in growth parameters, cardiac, respiratory, visual, auditory findings, and joint mobility were not significant. All patients and parents reported out an increased quality of life, which were not correlated with clinical results. The most prevalent mutation was p.L321P, accounting for 58.8% of the mutant alleles and two novel mutations (p.G79E and p.E390K) were found. ERT was a safe but expensive treatment for MPS VI, with mild benefits in severely affected patients. Early treatment with ERT is mandatory before many organs and systems are involved.
Anahtar Kelimeler : Enzyme Replacement Therapy, Genotype, Mucopolysaccharidosis Type VI, Outcome, article
Cilt: 173
Sayı: 11
ISSN: 1552-4825
Sınıflandırma :
14
Mandibuloacral dysplasia with absent breast development
Araştırma Makalesi

Araştırma Makalesi
Kaynak :
DSpace Makaleler
Dergi:
American Journal of Medical Genetics Part A
Yayıncı:
Wiley-Liss
Yazar(lar) :
Cogulu O , Gunduz C , Darcan S , Kadioglu B , Özkınay F , Özkınay Cihangir , Arkun R
Yıl :
2003
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
Kaydet Alıntıla
Anahtar Kelimeler : letter
Cilt: 119A
Sayı: 3
ISSN: 0148-7299
Sınıflandırma :
15
Clinical findings and phenotype in a toddler with 48,XXYY syndrome
Araştırma Makalesi

Araştırma Makalesi
Kaynak :
DSpace Makaleler
Dergi:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yayıncı:
WILEY-LISS
Yazar(lar) :
Demirhan , O
Yıl :
2003
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yayıncı Web Sitesi
 Piri Tam Metin Bulucu
Kaydet Alıntıla
DOI : 10.1002/ajmg.a.20015
Anahtar Kelimeler : letter
Cilt: 119A
Sayı: 3
ISSN: 0148-7299
Sınıflandırma :
16
Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies
Dergi Makalesi

Dergi Makalesi
Kaynak :
DSpace Makaleler
Dergi:
American Journal Of Medical Genetics Part A
Yayıncı:
Wiley-Liss
Yazar(lar) :
S Balci , O Engiz , D Aktas , I Vargel , MS Beksac , K Mrasek , T Liehr
Konu :
ring chromosome 4, Wolf-Hirschhorn syndrome (WHS), r(4)(, iris coloboma, cleft lip, palate, hypospadias, double urethral orifices, midgut malrotation, corpus callosum hypoplasia, multicolor banding (MCB), CGH analysis of chromosome 4
Yıl :
2006
American Journal Of Medical Genetics Part A
Yayıncı Web Sitesi
 Piri Tam Metin Bulucu
Kaydet Alıntıla
We report on a 16-month-old male patient with ring chromosome 4 and deletion of Wolf-Hirschhorn syndrome (WHS) region with multiple congenital anomalies including unilateral cleft lip and palate, iris coloboma, microcephaly, midgut malrotation, hypospadias, and double urethral orifices. Peripheral chromosome analysis of the patient showed 46,XY,r(4)(p16.3q35) de novo. Multicolor fluorescence in situ hybridization (FISH) study was also performed and according to multicolor banding (MCB) a r(4)(
DOI : 10.1002/ajmg.a.31131
Anahtar Kelimeler : ring chromosome 4, Wolf-Hirschhorn syndrome (WHS), r(4)(, iris coloboma, cleft lip and palate, hypospadias and double urethral orifices, midgut malrotation, corpus callosum hypoplasia, multicolor banding (MCB), CGH analysis of chromosome 4, article
Cilt: 140A
Sayı: 6
ISSN: 1552-4825
Sınıflandırma :
17
Sliding type hernia and ectopic pancreatic tissue in the stomach with renal agenesis and ear abnormalities: Branchio-oto-renal syndrome or hemifacial microsomia with additional findings
Araştırma Makalesi

Araştırma Makalesi
Kaynak :
DSpace Makaleler
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Özkınay F , Cogulu O , Özkınay Cihangir , Aydogdu S , Gunduz C , Tacoy S
Yıl :
2003
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
Kaydet Alıntıla
Anahtar Kelimeler : letter
Cilt: 120A
Sayı: 4
ISSN: 1552-4825
Sınıflandırma :
18
A rare cause of syndromic short stature: 3M syndrome in three families
Dergi Makalesi

Dergi Makalesi
Kaynak :
DSpace Makaleler
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Esra Isik , Duygu Arican , Tahir Atik , Joo Enn Ooi , Sukran Darcan , Samim Ozen , Ferda Ozkinay
Konu :
3M syndrome, CUL7, growth hormone, OBSL1, short stature
Yıl :
2021
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
Kaydet Alıntıla
3M syndrome is a rare autosomal recessive genetic disorder characterized by severe growth retardation, dysmorphic facial features, skeletal dysplasia, and normal intelligence. Variants in CUL7, OBSL1, and CCDC8 genes have been reported to be responsible for this syndrome. in this study, the clinical and molecular findings of four 3M syndrome cases from three families are presented. All cases had growth retardation, relative macrocephaly, and typical dysmorphic facial features. Their neurological developments were normal. Sequencing of CUL7, OBSL1, and CCDC8 genes revealed two different novel homozygous variants in CUL7 in Families 1 and 3 and a previously reported homozygous pathogenic variant in OBSL1 in Family 2. in conclusion, a comprehensive dysmorphological evaluation should be obtained in individuals presenting with short stature and in such individuals with typical facial and skeletal findings, 3M syndrome should be considered. Our report expands the genotype of 3M syndrome and emphasizes the importance of thorough physical and dysmorphological examination.
Anahtar Kelimeler : 3M syndrome, CUL7, growth hormone, OBSL1, short stature, article
Cilt: 185
Sayı: 2
ISSN: 1552-4825
Sınıflandırma :
19
A New Patient with LACHT Syndrome (Mardini-Nyhan Association)
Dergi Makalesi

Dergi Makalesi
Kaynak :
DSpace Makaleler
Dergi:
American Journal of Medical Genetics Part A
Yayıncı:
Wiley-Blackwell
Yazar(lar) :
Atik Tahir , Torun Huseyin Ozan , Cogulu Ozgur , Özkınay Ferda
Konu :
LACHT syndrome, Mardini-Nyhan association, lung agenesis, bifid thumb
Yıl :
2015
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
Kaydet Alıntıla
LACHT syndrome, Lung Agenesis, Congenital Heart defects, and Thumb anomalies, (Mardini-Nyhan Association OMIM #601612) is a rare condition characterized by unilateral or bilateral lung agenesis, complex cardiac defects, especially anomalous pulmonary venous return, and thumb anomalies. Based on previous cases, its inheritance pattern seems to be autosomal recessive. In 1985, the syndrome was firstly described by Mardini and Nyhan in four patients from unrelated families. Until now, a total of eight patients have been reported in the literature. Molecular cause of the disease is still unknown. Here, we report on a patient with LACHT syndrome diagnosed by clinical findings. In this study, we present a 4.5-month-old female infant with right lung agenesis and inguinal hernia, in which ovaries are revealed on ultrasonography. The infant was born to consanguineous parents following a 38th week of gestation, with a birth weight of 2,800g. Overall development was consistent with age; she had thumb abnormalities. Echocardiography showed peripheral pulmonary stenosis. The girl was diagnosed as LACHT syndrome based on the findings of unilateral lung agenesis, thumb anomalies, and peripheral pulmonary stenosis. LACHT syndrome should be considered in the differential diagnosis of patients with unilateral or bilateral lung agenesis. Here, we report on the 9th case in the literature. The consanguinity of the parents supports autosomal inheritance as the genetic basis of LACHT syndrome. (c) 2014 Wiley Periodicals, Inc.
Anahtar Kelimeler : LACHT syndrome, Mardini-Nyhan association, lung agenesis, bifid thumb, article
Cilt: 167
Sayı: 2
ISSN: 1552-4825
Sınıflandırma :
20
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination
Dergi Makalesi

Dergi Makalesi
Kaynak :
DSpace Makaleler
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Zafer Yüksel , Merve Yazol , Evren Gümüs
Konu :
ACTLB6, DECAM, Inframe Deletion, Neurodevelopment, WES
Yıl :
2019
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
Kaydet Alıntıla
The extensive usage of next generation sequencing, particularly for the patients affected with neurodevelopmental disorders, has increased our understanding and enabled identifying novel disorder genes. Here, we report an extended consanguineous family having at least three affected children with ACTL6B-related neurodevelopmental disorder and expand the known phenotypic spectrum by characterizing the clinical findings using a standardized vocabulary, Human Phenotype Ontology Terms.
Anahtar Kelimeler : ACTLB6, DECAM, Inframe Deletion, Neurodevelopment, WES, article
Cilt: 179
Sayı: 8
ISSN: 1552-4825
Sınıflandırma :
21
Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3
Dergi Makalesi

Dergi Makalesi
Kaynak :
DSpace Makaleler
Yazar(lar) :
S Malik , FE Percin , W Ahmad , S Percin , NA Akarsu , MC Koch , KH Grzeschik
Konu :
autosomal recessive syndactyly, mesoaxial synostosis, 17p13.3, linkage analysis, syndactyly type IX Malik-Percin type
Yıl :
2005
10.1002/ajmg.a.30656 AMERICAN JOURNAL OF MEDICAL GENETICS PART A Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
Yayıncı Web Sitesi
Kaydet Alıntıla
Previously we have described a novel and distinct form of non-syndromic osseous syndactyly segregating in an autosomal recessive pattern in a consanguineous Pakistani family. The limb findings include mesoaxial reduction of the fingers, synostoses of the third and fourth metacarpals with associated single phalanges, fifth finger clinodactyly, and preaxial webbing of toes. We identified another published report of this phenotype in a large, inbred Turkish family. In the present study we mapped the phenotype in the Pakistani and Turkish families to chromosome 17p13.3 (multipoint LOD score 5.1). The identification of a single locus for this complex limb malformation in two families with distinct ethnic backgrounds supports the hypothesis that this is a distinct form of syndactyly. Since this form of syndactyly is phenotypically distinct from the previously described eight types, we propose to name this phenotype (m) under bar esoaxial (s) under bar yostotic (s) under bar yndactyly with phalangeal reduction (MSSD, type IX syndactyly, Malik-Percin type). (c) 2005 Wiley-Liss, Inc.
Anahtar Kelimeler : autosomal recessive syndactyly, mesoaxial synostosis, 17p13.3, linkage analysis, syndactyly type IX Malik-Percin type, article

ISSN: 1552-4825
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