PDF(Pubmed)
Abstract：
In this study, we report a case of bilateral mild hearing loss and keratoderma caused by a gap junction beta-2 (GJB2) variant. The proband was a nine-year-old Japanese boy with bilateral mild hearing loss at birth. The proband\'s father, sister, paternal aunt, and cousins had mild sensorineural hearing loss. Further evaluation revealed keratoderma on the feet of the proband, father, sister, paternal aunt, and cousins. We identified a heterozygous c.250G>A (p.Val84Met) variant in GJB2 as the cause of the autosomal dominant syndromic hearing loss with the skin disorder in this Japanese family and delineated the pathological significance of the variant. The Val84Met variant in GJB2 contributes to the autosomal dominant form of syndromic hearing loss with keratoderma.
摘要：
在这项研究中,我们报告一例由间隙连接β-2(GJB2)变异体引起的双侧轻度听力损失和角化病.先证者是一名9岁的日本男孩，出生时患有双侧轻度听力损失。先证者的父亲，姐姐,姑姑,表兄弟有轻度的感觉神经性听力损失。进一步评估显示先证者脚上有角化病，父亲,姐姐,姑姑,和表亲。我们鉴定了一个杂合的c.250G>A（p。GJB2中的Val84Met）变体是该日本家族中皮肤疾病的常染色体显性综合征性听力损失的原因，并描述了该变体的病理意义。GJB2中的Val84Met变体有助于常染色体显性遗传形式的角化综合征性听力损失。
