Clinical Features of Syndromic Hearing Impairments and Research Advances on their Associated Genes
LI Shujuan
LIU Xiaowen
CHEN Xingjian
LIU Beibei
GUO Yufen
Abstract：According to the latest data from the World Health Organization (WHO), there are about 360 million people with hearing impairments worldwide, equivalent to 5%of the world's population. Syndromic hearing impairment is a complex class of hereditary hearing loss, whose inheritance patterns are mainly autosomal dominant, autosomal re-cessive and sex-linked inheritance, as well as mitochondrial inheritance. Gene mutations that cause syndromic hearing impairment are diverse and show obvious genetic heterogeneity. Therefore, understanding current research progress of these diseases, as well as detection of related genes in clinical practice, is of great importance for correct diagnosis, ge-netic counseling and clinical treatment effectiveness evaluation.
Keywords：Syndromic Hearing ImpairmentMutationGenetic HeterogeneityGene Therapy
Publication Date：2018-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：7( 375-381 )