P2.48 Increasing number of new recessive mutations in ANO5: 11 different mutations in 27 patients
نویسندگان
چکیده
Proteomic studies of muscle progenitor cells in affected and non-affected oculopharyngeal muscular dystrophy muscles T. Gidaro , K. Mamchaoui , B. Bouazza , S. Perié , F. Svinartchouk , S. Blumen , J.J.S. Guily , G. Butler-Browne , V. Mouly , C. Trollet a Thérapie des maladies du muscle strié/Institut de Myologie, UM76 – UPMC Univ. Paris 6/U974 – Inserm/UMR7215 – CNRS, Paris, France; Service d’Oto-Rhino-Laryngologie et de Chirurgie Cervico-Faciale, Faculté de Médecine St Antoine, Université Pierre et Marie ur, Hôpital Tenon, Paris, France; Genethon, Evry, France; Hillel Yaffe Medical Center, Department of Neurology, Hadera, Israel
منابع مشابه
Relative frequency of GJB2 gene mutations in autosomal recessive non-syndromic hearing loss (ARNSHL) patients in Lorestan population
Background: Congenital hearing loss due to different genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2 (Gap Junction Beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. Materials and methods: The aim of this study was to study the frequency of GJB2 Mutations in Lor...
متن کاملغربالگری ناشنوایان غیرسندرمی جسمی مغلوب برای جایگاه کروموزومی ناشنوایی غیرسندرمی با وراثت مغلوب نوع I(DFNB1) در استان‌های آذربایجان شرقی و غربی
Background & Aim: Hereditary hearing loss(HHL) affects one in 1000-2000 newborns and more than 50% of these cases have a genetic base. About 70% of HHL are nonsyndromic with autosomal recessive forms accounting for 85% of the genetic load. Different genes have been reported to be involved, but mutations in GJB2 gene at DFNB1 locus have been established as the basis of autosomal recessive no...
متن کاملNovel mutations in ATP7B gene of Wilson\'s disease in Iranian patients
Bacground: Wilson's disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in liver and brain. The disorder is caused by mutations in the ATP7B gene, encoding a copper transporting P-type ATPase. Characterization of the spectrum of mutations in this gene is important both for diagnosis and genetic counseling of the families. Materials and Methods: We enrol...
متن کاملشناسایی و تشخیص مولکولی جهش های ژن آلفا-ال- ایدورونیداز در 5 خانواده ایرانی مبتلا به سندرم هورلر ( موکوپلی ساکاریدوز 1)
Introduction: Mucopolysaccharidosis I (MPS-I) is an autosomal recessive lysosomal storage diseases, caused by α-L-iduronidase (IDUA) enzyme deficiency. The clinical manifestations of MPS-I patients are variable ranging from severe to mild, and therefore prediction of disease severity is difficult. From when IDUA gene has been cloned more than 109 distinct mutations have been identified in it an...
متن کاملAssociation of a New Germline Variant in the MUTYH DNA Glycosylase Gene with Colorectal Adenoma Transformation into Malignancy
Background: MUTYH DNA glycosylase germline mutations are linked to the recessive inheritance of multiple adenoma. Studies have revealed that germline mutations in this gene are ethnicity related. This study aimed to identify the germline mutations in MUTYH gene and determine their prevalence among Jordanian patients with colorectal adenoma. Methods: In this study, 150 colorectal adenoma patient...
متن کامل