Novel cis compound heterozygous variants in MYO6 causes early onset of non-syndromic hearing loss in a Chinese family

Novel cis compound heterozygous variants in MYO6 causes early onset of non-syndromic hearing loss in a Chinese family

Background: Mutations in the MYO6 gene have been associated with both autosomal dominant non-syndromic hearing loss (ADNSHL) and autosomal recessive non-syndromic hearing loss (ARNSHL), with a cumulative identification of 125 pathogenic variants. To investigate the underlying genetic factor within a...

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Bibliographic Details
Main Authors: Haiting Ji, Lichun Zhang, Hafiz Muhammad Jafar Hussain, Ayesha Aftab, Huiqian Yu, Min Xiao
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Genetics
Subjects:
non-syndromic hearing loss
targeted gene panel sequencing
Sanger sequencing
MYO6
cis pattern
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1275633/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1275633/full

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