Huang Maomin, Zhang Dingding
Department of Immunology, Zunyi Medical University, Zunyi, Guizhou 563000, China. Email:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Dec 10;34(6):928-933. doi: 10.3760/cma.j.issn.1003-9406.2017.06.033.
In addition to hearing impairment, syndromic hearing impairment is often accompanied by disorders of urinary, skeletal, muscular, nervous, and ocular systems. Genetic factors have shown to play an important role in the pathogenesis of deafness. Mutations of X-linked genes may cause syndromic hearing impairment. Gene mapping, linkage analysis and next-generation sequencing may facilitate delineation of the pathogenesis of X-linked syndromic hearing impairment. This article reviews recent progress in molecular genetic research on X-linked syndromic hearing impairment, which may shed light for the diagnosis and treatment of these diseases.
除听力障碍外,综合征性听力障碍常伴有泌尿、骨骼、肌肉、神经和眼部系统疾病。遗传因素在耳聋发病机制中起着重要作用。X连锁基因的突变可能导致综合征性听力障碍。基因定位、连锁分析和新一代测序可能有助于阐明X连锁综合征性听力障碍的发病机制。本文综述了X连锁综合征性听力障碍分子遗传学研究的最新进展,这可能为这些疾病的诊断和治疗提供线索。