Spectrum of <i>MYO7A</i> Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations

Spectrum of <i>MYO7A</i> Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations

<i>MYO7A</i> gene encodes unconventional myosin VIIA, which, when mutated, causes a phenotypic spectrum ranging from recessive hearing loss DFNB2 to deaf-blindness, Usher Type 1B (USH1B). <i>MYO7A</i> mutations are reported in nine DFNB2 families to date, none from sub-Sahara...

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Bibliographic Details
Main Authors: Rosemary Ida Kabahuma, Wolf-Dieter Schubert, Christiaan Labuschagne, Denise Yan, Susan Halloran Blanton, Michael Sean Pepper, Xue Zhong Liu
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:Genes
Subjects:
DFNB2
<i>MYO7A</i> gene
recessive hearing loss
spectrum of <i>MYO7A</i> mutations
South African
homozygous
Online Access:https://www.mdpi.com/2073-4425/12/2/274

Internet

https://www.mdpi.com/2073-4425/12/2/274

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