In:
American Journal of Medical Genetics Part A, Wiley, Vol. 164, No. 12 ( 2014-12), p. 3115-3119
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v164.12
DOI:
10.1002/ajmg.a.36785
Language:
English
Publisher:
Wiley
Publication Date:
2014
detail.hit.zdb_id:
1493479-6
SSG:
12
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