Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family
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- 作者：Amritkumar Pavithra ; Jayasankaran Chandru…
- 关键词：GJB2 mutations ; Autosomal dominant ; Assortative mating ; p.R184Q mutation ; Nonsyndromic hearing loss ; Triallelic ; India ; Compound heterozygosity
- 刊名：European Archives of Oto-Rhino-Laryngology
- 出版年：2017
- 出版时间：January 2017
- 年：2017
- 卷：274
- 期：1
- 页码：119-125
- 全文大小：
- 刊物类别：Medicine
- 刊物主题：Otorhinolaryngology; Neurosurgery; Head and Neck Surgery;
- 出版者：Springer Berlin Heidelberg
- ISSN：1434-4726
- 卷排序：274
文摘
Connexin 26 (Cx-26), a gap junction protein coded by GJB2 gene, plays a very important role in recycling of potassium ions, one of the vital steps in the mechanotransduction process of hearing. Mutations in the GJB2 gene have been associated with both autosomal recessive as well as dominant nonsyndromic hearing loss. As Cx-26 is linked with skin homeostasis, mutations in this gene are sometimes associated with syndromic forms of hearing loss showing skin anomalies. We report here a non consanguineous assortatively mating hearing impaired family with one of the hearing impaired partners, their hearing impaired sibling and hearing impaired offspring showing compound heterozygosity in the GJB2 gene, involving a dominant mutation p.R184Q and two recessive mutations p.Q124X and c.IVS 1+1G>A in a unique triallelic combination. To the best of our knowledge, this is the first report from India on p.R184Q mutation in the GJB2 gene associated with rare compound heterozygosity showing nonsyndromic presentation.