Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family

Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family

Abstract Background Deafness, autosomal recessive 77 (DFNB77) is a rare non-syndromic hearing loss (NSHL) worldwide, which is caused by deleterious variants within lipoxygenase homology domains 1 (LOXHD1). Here we identified that a novel missense variant of LOXHD1 was associated with NSHL in a Chine...

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Bibliographic Details
Main Authors: Na Shen, Ting Wang, Delei Li, Aiguo Liu, Yanjun Lu
Format: Article
Language:English
Published: BMC 2019-02-01
Series:BMC Medical Genetics
Subjects:
Deafness, autosomal recessive 77 (DFNB77)
Non-syndromic hearing loss (NSHL)
Lipoxygenase homology domains 1 (LOXHD1)
Genetic variant
Whole-exome sequencing (WES)
Online Access:http://link.springer.com/article/10.1186/s12881-019-0758-2

Internet

http://link.springer.com/article/10.1186/s12881-019-0758-2

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