[PROVISIONAL] Whole exome sequencing identifies a novel variant in an apoptosis-inducing factor gene associated with X-linked recessive hearing loss in a Chinese Family

[PROVISIONAL] Whole exome sequencing identifies a novel variant in an apoptosis-inducing factor gene associated with X-linked recessive hearing loss in a Chinese Family

Abstract We report on the genetic analysis of a Chinese family in which four male patients presented with postlingual progressive hearing loss, associated with distal muscle wasting and unsteady ataxic gait. Using whole exome sequencing, we identified a new pathogenic variant (c.1463C>T, p.Pro488...

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Bibliographic Details
Main Authors: Qi Wang, Xingxing Lu, Zhiwei Ding, Yu Qi, Yuhe Liu
Format: Article
Language:English
Published: Sociedade Brasileira de Genética
Series:Genetics and Molecular Biology
Subjects:
whole exome sequencing
apoptosis-inducing factor
AIFM1
X-linked recessive hereditary hearing loss
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005021101&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005021101&lng=en&tlng=en

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