Genetics of Hearing Loss-Nonsyndromic
Genetics of Hearing Loss-Nonsyndromic
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DOI：
10.1016/j.otc.2015.06.005
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发表时间：
2015-12-01
影响因子：
1.7
通讯作者：
Chang, Kay W.
中科院分区：
文献类型：
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作者：
Chang, Kay W.
80%的非综合征性听力损失是由常染色体隐性遗传（AR）引起的，而另外20%的大多数是由常染色体显性遗传（AD）引起的。虽然AR非综合征性SNHL最常由GJB2和SLC26A4引起，但没有单一基因在AD SNHL中占任何显著比例。高通量测序技术，也称为下一代测序（NGS）或大规模平行测序（MPS），可能在不久的将来允许对听力损失的所有可能的遗传原因进行常规的明确诊断。
Eighty percent of nonsyndromic hearing losses are caused by autosomal-recessive (AR) inheritance, while most of the other 20% are caused by autosomal-dominant (AD) inheritance. Although AR nonsyndromic SNHL is most commonly caused by GJB2 and SLC26A4, there is no single gene that accounts for any significant proportion of AD SNHL. High-throughput sequencing techniques, also called next-generation sequencing (NGS) or massively parallel sequencing (MPS), may allow for routine definitive diagnosis of all possible genetic causes for hearing loss in the not-too-distant future.