Alehabib Elham, Alinaghi Somayeh, Pourfatemi Fatemeh, Darvish Hossein
Student Research Committee, Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, 1090, Vienna, Austria.
Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Int J Pediatr Otorhinolaryngol. 2020 Aug;135:110014. doi: 10.1016/j.ijporl.2020.110014. Epub 2020 Apr 21.
Waardenburg syndrome (WS) is a group of genetic disorders that often determined by abnormal pigmentation and hearing impairment. Four subgroups of disease are recognized according to physical characteristics and involved genes. Mutation in the genes, MITF, SOX10, SNAI2, PAX3, KIT and KITLG are related to Waardenburg syndrome type II. In this study, we performed exome sequencing in a WS2 proband and detected a heterozygous non-sense variation in MITF. Clinical features, pedigrees investigations and molecular segregation revealed autosomal dominant inheritance with incomplete penetrance. To our knowledge it's the first evidence about incomplete penetrance of WS2 related to MITF gene.
瓦登伯革氏综合征（WS）是一组遗传性疾病，通常由色素沉着异常和听力障碍所决定。根据身体特征和相关基因，该疾病可分为四个亚组。MITF、SOX10、SNAI2、PAX3、KIT和KITLG等基因的突变与II型瓦登伯革氏综合征有关。在本研究中，我们对一名WS2先证者进行了外显子组测序，并在MITF基因中检测到一个杂合的无义变异。临床特征、家系调查和分子分离分析显示为常染色体显性遗传，且具有不完全外显率。据我们所知，这是关于与MITF基因相关的WS2不完全外显率的首个证据。
