Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
Biochem Biophys Res Commun. 2010 Nov 12;402(2):305-7. doi: 10.1016/j.bbrc.2010.10.021. Epub 2010 Oct 19.
Mutations in the GJB2 gene are the most common cause of nonsyndromic autosomal recessive sensorineural hearing loss (HL). A few mutations in GJB2 have also been reported to cause dominant nonsyndromic HL. Here we report a large inbred family including two individuals with nonsyndromic sensorineural hearing loss. A dominant GJB2 mutation, c.551G>A (p.R184Q), was detected in the proband, yet his parents were negative for the mutation. The second affected person had heterozygous c.35delG mutation, which was inherited from his father. Large deletions of the GJB6 gene were not detected in this family. This study highlights the importance of mutation analysis in all affected cases within a pedigree.
GJB2 基因突变是最常见的常染色体隐性遗传感觉神经性耳聋（HL）的原因。少数 GJB2 基因突变也被报道可导致显性非综合征性 HL。本研究报道了一个大型近亲家系，其中包括 2 名非综合征性感觉神经性耳聋患者。先证者携带显性 GJB2 突变 c.551G>A（p.R184Q），但其父母均未携带该突变。第 2 个受累者携带杂合 c.35delG 突变，该突变来自其父亲。该家系中未检测到 GJB6 基因的大片段缺失。本研究强调了对家系内所有受累病例进行突变分析的重要性。
