Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward.
Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward.
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DOI：
10.11604/pamj.2015.20.383.5230
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发表时间：
2015
期刊：
影响因子：
--
通讯作者：
Wonkam A
中科院分区：
文献类型：
--
作者：
Lebeko K;Bosch J;Noubiap JJ;Dandara C;Wonkam A
听力损失是最常见的沟通障碍，影响全世界约1-7/1000的新生儿。受影响最严重的地区是发展中国家，因为它们的卫生保健系统普遍很差。环境因素导致50-70%的病例，特别是撒哈拉以南非洲的脑膜炎。另外30-50%是遗传因素。非综合征性听力损失是最常见的听力损失形式，占病例的70%。最常见的遗传方式是常染色体隐性遗传。与常染色体隐性遗传性非综合征性听力损失（ARNSHL）相关的最常见突变存在于连接蛋白基因（如GJB 2）中，主要发生在欧洲和亚洲血统的人群中。例如，GJB 2的c.35delG突变在70%的欧洲血统的ARNSHL患者中发现，并且在其他种族的人群中罕见。其他GJB 2突变已在不同人群中报道。第二个最常见的突变是在连接蛋白基因GJB 6中发现的，在欧洲血统的患者中也有很高的患病率。到目前为止，已经有60多个基因与ARNSHL相关。我们以前的研究表明，GJB 2、GJB 6和GJA 1的突变不是非洲血统ARNSHL住院患者的重要原因，即喀麦隆人和南非人。目前认为至少有60个基因在ARNSHL中起作用，因此目前使用桑格测序的方法将是不合适的，因为它将是昂贵和耗时的。下一代测序（NGS）提供了最佳的替代方法。在这篇综述中，我们报告了在不同人群中观察到的使用NGS的成功，并倡导使用NGS来解决撒哈拉以南非洲人群中的ARNSHL病例。
Hearing loss is the most common communication disorder affecting about 1-7/1000 births worldwide. The most affected areas are developing countries due toextensively poor health care systems. Environmental causes contribute to 50-70% of cases, specifically meningitis in sub-Saharan Africa. The other 30-50% is attributed to genetic factors. Nonsyndromic hearing loss is the most common form of hearing loss accounting for up to 70% of cases. The most common mode of inheritance is autosomal recessive. The most prevalent mutations associated with autosomal recessive nonsyndromic hearing loss (ARNSHL) are found within connexin genes such as GJB2, mostly in people of European and Asian origin. For example, the c.35delG mutation ofGJB2 is found in 70% of ARNSHL patients of European descentand is rare in populations of otherethnicities. Other GJB2 mutations have been reported in various populations. The second most common mutations are found in theconnexin gene, GJB6, also with a high prevalencein patients of European descent. To date more than 60 genes have been associated with ARNSHL. We previously showed that mutations in GJB2, GJB6 and GJA1 are not significant causes of ARNSHL inpatients from African descents, i.e. Cameroonians and South AfricansIn order to resolve ARNSHL amongst sub-Saharan African patients, additional genes would need to be explored. Currently at least 60 genes are thought to play a role in ARNSHL thus the current approach using Sanger sequencing would not be appropriate as it would be expensive and time consuming. Next Generation sequencing (NGS) provides the best alternative approach. In this review, we reported on the success of using NGSas observed in various populations and advocate for the use of NGS to resolve cases of ARNSHL in sub-Saharan African populations.
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影响因子：
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作者：
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DOI：
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发表时间：
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影响因子：
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