Center for Statistical Genetics, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, NY, USA.
Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Hum Genet. 2022 Apr;141(3-4):413-430. doi: 10.1007/s00439-021-02309-9. Epub 2021 Jul 22.
Hearing impairment (HI) is one of the most common sensory disabilities with exceptionally high genetic heterogeneity. Of genetic HI cases, 30% are syndromic and 70% are nonsyndromic. For nonsyndromic (NS) HI, 77% of the cases are due to autosomal recessive (AR) inheritance. ARNSHI is usually congenital/prelingual, severe-to-profound, affects all frequencies and is not progressive. Thus far, 73 ARNSHI genes have been identified. Populations with high rates of consanguinity have been crucial in the identification of ARNSHI genes, and 92% (67/73) of these genes were identified in consanguineous families. Recent changes in genomic technologies and analyses have allowed a shift towards ARNSHI gene discovery in outbred populations. The latter is crucial towards understanding the genetic architecture of ARNSHI in diverse and understudied populations. We present an overview of the 73 ARNSHI genes, the methods used to identify them, including next-generation sequencing which revolutionized the field, and new technologies that show great promise in advancing ARNSHI discoveries.
听力障碍（HI）是最常见的感觉障碍之一，具有极高的遗传异质性。遗传性 HI 病例中，30%为综合征型，70%为非综合征型。对于非综合征型 HI（NSHI），77%的病例是由常染色体隐性（AR）遗传引起的。ARNSHI 通常为先天性/语前、重度至极重度、影响所有频率且无进展。迄今为止，已经确定了 73 个 ARNSHI 基因。在 ARNSHI 基因的鉴定中，高发近亲结婚的人群至关重要，其中 92%（67/73）的基因是在近亲家庭中发现的。基因组技术和分析的最新变化使得在非近亲结婚的人群中进行 ARNSHI 基因发现成为可能。这对于理解不同和研究较少的人群中 ARNSHI 的遗传结构至关重要。我们介绍了 73 个 ARNSHI 基因的概述，以及用于识别它们的方法，包括革命性的下一代测序技术，以及在推进 ARNSHI 发现方面具有广阔前景的新技术。
