Article
Functional Characterization of the MYO6 Variant p.E60Q in Non-Syndromic Hearing Loss Patients.
International journal of molecular sciences - 21 Mar 2022
Alkowari Moza, Espino-Guarch Meritxell, Daas Sahar, Abdelrahman Doua, Hasan Waseem, Krishnamoorthy Navaneethakrishnan, Sathappan Abbirami, Sheehan Patrick, Panhuys Nicholas Van, The Qatar Genome Program Research Consortium, Estivill Xavier
Abstract excerpt
Hereditary hearing loss (HHL) is a common genetic disorder accounting for at least 60% of pre-lingual deafness in children, of which 70% is inherited in an autosomal recessive pattern. The long tradition of consanguinity among the Qatari population has increased the prevalence of HHL, which negatively impacts the quality of life. Here, we functionally validated the pathogenicity of the c.178G>C, p.E60Q mutation...
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