identification of a p.cys33phefsx36 mutation in an iranian family withprofound biotinidase deficiency (btd)
نویسندگان
چکیده
منابع مشابه
Identification of a Novel Mutation in CNNM4 Gene in an Iranian Family with Jalili Syndrome
Background and Objectives: Jalili syndrome is a rare autosomal recessive genetic disorder, which so far, only 33 families with this disorder have been reported worldwide. Patients with this disease simultaneously develop cone-rod retinal dystrophy (CRD) and amelogenesis imperfecta (AI). In this study, a mutation causing Jalili syndrome, was investigated in an Iranian family. Case Report: The...
متن کاملIdentification of a Novel CLCNKB Mutation in an Iranian Family with Bartter Syndrome Type 3.
Bartter syndrome (BS) is a group of uncommon genetic disorders of reabsorption of salt in the cortical thick ascending limb (TAL) of the Henle's loop, typically distinguished by metabolic alkalosis, salt loss, hypokalemia, hyperreninemic hyperaldosteronism and normal blood pressure. Bartter syndrome type 3, recognized as a classic BS (CBS), occurs because of mutations in CLCNKB gene. We enroll...
متن کاملIdentification of the Peroxisomal Biogenesis Factor 1 Gene Point Mutation in an Iranian Family with Zellweger Syndrome (ZS)
Background & Objective: Peroxisome biogenesis disorders (PBDs) are a group of diseases with peroxisomal dysfunction. Wide range of symptoms are associated with the disease which are due to mutations in the PEX genes. The PEX1 mutation occurs in Zellweger syndrome (ZS), a severe autosomal recessive condition with hypotonia, intellectual disability, and hepatic enlargement. The present study ...
متن کاملBiotinidase Deficiency: A Reversible Neurometabolic Disorder (An Iranian Pediatric Case Series)
OBJECTIVE Biotinidase deficiency is one of the rare congenital metabolic disorders with autosomal recessive inheritance. If this disorder is diagnosed in newborn period, could be prevented well from mental and physical developmental delay and most of clinical manifestations. MATERIALS & METHODS The patients were diagnosed as biotinidase deficiency in Neurology Department of Mofid Children's H...
متن کاملIdentification of a new mutation in an Iranian family with hereditary multiple osteochondromas
BACKGROUND Hereditary multiple osteochondromas (HMO), previously named hereditary multiple exostoses (HME), is an autosomal dominant skeletal disorder characterized by the growth of multiple osteochondromas and is associated with bony deformity, skeletal growth reduction, nerve compression, restriction of joint motion, and premature osteoarthrosis. HMO is genetically heterogeneous, localized on...
متن کاملA CDH3 Mutation is Segregated in an Iranian Family with Congenital Hypotrichosis and Juvenile Macular Dystrophy
Backgrounds Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare genetic disorder caused from mutations in the Cadherin 3 (CDH3) gene. Results In the present study, we reported an Iranian family with three affected members born to a consanguineous parent. Mutational analysis using whole exome sequencing has revealed a nucleotide change in CDH3 gene (NM_001793:exon8:c.830delG) which l...
متن کاملمنابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
molecular and biochemical diagnosis (journal)ناشر: tarbiat modares university
ISSN 2383-0522
دوره 1
شماره 1 2014
میزبانی شده توسط پلتفرم ابری doprax.com
copyright © 2015-2023