Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss
Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss
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DOI：
10.1002/(sici)1096-8628(19990924)89:3
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发表时间：
1999-09-24
期刊：
影响因子：
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通讯作者：
Kelley, PM
中科院分区：
文献类型：
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作者：
Cohn, ES;Kelley, PM
连接蛋白26（GJB 2）基因突变是美国和欧洲人群中听力损失的最常见原因，携带率约为3%-与囊性纤维化相似。一个单一的突变，35 delG，是负责大多数这种常染色体隐性听力损失，DFNB 1。GJB 2的一系列突变与听力损失有关，包括另一种缺失突变167 delT，在德系犹太人中的携带率约为4%。GJB 2的突变也被发现与显性非综合征性听力损失（DFNA 3）有关。临床研究表明，隐性听力损失可以从轻度到重度不等，即使在同一兄弟姐妹中也是如此。这种类型的听力损失是非综合征性的，并伴有正常的视力，前庭反应，并没有通过计算机断层扫描检测到内耳畸形。在某些情况下，已经注意到进行性和不对称的听力损失，但它占这种类型听力损失病例的不到三分之一。GJB 2突变导致听力损失的发现对听力损失的早期诊断具有深远的意义。通过Cx 26基因检测诊断相对容易，可以早期识别患有GJB 2/DFNB 1听力损失的儿童。这项测试，加上婴儿听觉脑干反应测听诊断的听力损失，将确保听力受损的儿童和他们的父母得到适当的医疗，听力，遗传和教育咨询。(C)2000 Wiley-Liss，Inc.
Mutations in the gene for connexin 26, GJB2, are the most common cause of hearing loss in American and European populations, with a carrier rate of about 3%-a rate similar to that for cystic fibrosis. A single mutation, 35delG, is responsible for most of this autosomal recessive hearing loss, DFNB1. A broad spectrum of mutations in GJB2 has been found to be associated with hearing loss, including another deletion mutation, 167delT, which has a carrier rate of about 4% in the Ashkenazi Jewish population. Mutations in GJB2 have also been found to be associated with dominant nonsyndromic hearing loss, DFNA3. Clinical studies have shown that the recessive hearing loss can vary from mild to profound, even within the same sibship. This type of hearing loss is nonsyndromic and is accompanied by normal vision, vestibular responses, a nd no malformations of the inner ear detectable by computed tomography scanning. Progressive and asymmetrical hearing loss has been noted in some cases, but it accounts for fewer than one-third of the cases of this type of hearing loss. The discovery of mutations in GJB2 that cause hearing loss has profound implications in the early diagnosis of hearing loss in general. The relative ease of diagnosis by genetic testing of Cx26 permits early identification of children with GJB2/DFNB1 hearing loss. This testing, coupled with hearing loss diagnosed by infant auditory brainstem response audiometry, will ensure that hearing-impaired children and their parents receive proper medical, audiologic, genetic, and educational counseling. (C) 2000 Wiley-Liss, Inc.