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Molecular etiology of non‐dominant, non‐syndromic, mild‐to‐moderate childhood hearing impairment in Chinese Hans
Author(s) -
Chai Yongchuan,
Pang Xiuhong,
Chen Dongye,
Li Lei,
Chen Ying,
Sun Lianhua,
Wang Xiaowen,
Wu Hao,
Yang Tao
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36785
Subject(s) - proband , etiology , genetics , hearing loss , allele , medicine , mutation , gene , biology , audiology
Childhood hearing impairment (HI) is genetically heterogeneous. Compared with the severe‐to‐profound HI, the molecular etiology of mild‐to‐moderate HI in children has been less well characterized, especially for those not inherited in the dominant mode. In this study, we recruited 114 probands with non‐dominant, non‐syndromic, mild‐to‐moderate childhood HI. Sequencing of GJB2 , SLC26A4 , and MTRNR1 identified causative mutations in 30.7% (35/114), 4.4% (5/114), and 4.4% (5/114) of subjects, respectively. A majority (62.9%) of bi‐allelic GJB2 mutations have non‐truncating mutations in at least one allele. In 10 multiplex probands with no GJB2 , SLC26A4 , and MTRNR1 mutations identified, targeted next‐generation sequencing (NGS) of 79 known deafness genes did not identify any additional causes. Our data showed that the molecular etiology of mild‐to‐moderate childhood HI is considerably different from what reported for severe‐to‐profound HI and far from complete for those inherited in non‐dominant modes. © 2014 Wiley Periodicals, Inc.