Whole‐exome sequencing identifies a donor splice‐site variant in SMPX that causes rare X‐linked congenital deafness

Whole‐exome sequencing identifies a donor splice‐site variant in SMPX that causes rare X‐linked congenital deafness

Abstract Background X‐linked deafness‐4 (DFNX4) caused by functional loss of SMPX is a nonsyndromic form of progressive hearing loss with post‐lingual onset. Herein, we describe a male neonate from an ethnic Han Chinese family who presented with congenital deafness. Methods The proband and the famil...

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Bibliographic Details
Main Authors: Yuan Lv, Jia Gu, Hao Qiu, Huan Li, Zhitao Zhang, Shaowei Yin, Yan Mao, Lingyin Kong, Bo Liang, Hongkun Jiang, Caixia Liu
Format: Article
Language:English
Published: Wiley 2019-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
DFNX4
novel variant
SMPX
splicing
whole‐exome sequencing
X‐linked hearing loss
Online Access:https://doi.org/10.1002/mgg3.967

Internet

https://doi.org/10.1002/mgg3.967

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