PDF(Pubmed)
Abstract：
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.
摘要：
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。在遗传性HI病例中，30％为综合征，70％为非综合征。对于非综合征（NS）HI，77%的病例是由于常染色体隐性遗传(AR)。ARNSHI通常是先天性/语言前，严重到深刻，影响所有频率，并且不是渐进的。到目前为止,已鉴定出73种ARNSHI基因。具有高血缘率的群体在鉴定ARNSHI基因中至关重要，92％（67/73）的这些基因在近亲家族中被鉴定。基因组技术和分析的最新变化已经允许在远交群体中转向ARNSHI基因发现。后者对于理解不同和未被研究的人群中ARNSHI的遗传结构至关重要。我们概述了73个ARNSHI基因，用来识别它们的方法，包括彻底改变该领域的下一代测序，以及在推进ARNSHI发现方面显示出巨大希望的新技术。
