TJP2 Gene Mutation c.G1012A May Responsible for Congenital Hearing Loss with Incomplete Penetrance in An Iranian Pedigree
- سال انتشار: 1398
- محل انتشار: مجله منابع ژنتیک، دوره: 5، شماره: 2
- کد COI اختصاصی: JR_SGR-5-2_008
- زبان مقاله: انگلیسی
- تعداد مشاهده: 437
نویسندگان
Department of Clinical Biochemistry, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Biochemistry Department, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran
Department of Otorhinolaryngology, Loghman Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
چکیده
Hereditary hearing loss (HHL) comprises half of the congenital deafness which arises from genetic mutations. Mutations in the TJP2 gene, encoding tight junction protein 2, are one of the gene alterations in HHL resulting in an autosomal dominant nonsyndromic form of the disease. An 11-year-old male patient with clinically approved congenital hearing loss was referred to our laboratory. The molecular genetic analysis detected an atypical heterozygous variant -c.1012G > C, p.G338R in exon 5 of the TJP2 gene on chromosome 9 position 71836379 (GRch37). Segregation analysis for his parents has uncovered the same mutation in the patient’s mother, but without any deafness phenotype. This case report provided evidence to demonstrate for the first time the incomplete penetrance of this TJP2 mutation and proposed this mutation as a likely pathogenic variant in an Iranian pedigree.کلیدواژه ها
Hereditary hearing loss, Missense mutation, Incomplete penetrance, TJP2اطلاعات بیشتر در مورد COI
COI مخفف عبارت CIVILICA Object Identifier به معنی شناسه سیویلیکا برای اسناد است. COI کدی است که مطابق محل انتشار، به مقالات کنفرانسها و ژورنالهای داخل کشور به هنگام نمایه سازی بر روی پایگاه استنادی سیویلیکا اختصاص می یابد.
کد COI به مفهوم کد ملی اسناد نمایه شده در سیویلیکا است و کدی یکتا و ثابت است و به همین دلیل همواره قابلیت استناد و پیگیری دارد.