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Article

Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment.

Journal of biomolecular structure & dynamics - 1 Jan 2022

Souissi Amal, Abdelmalek Driss Dorra, Chakchouk Imen, Ben Said Mariem, Ben Ayed Ikhlas, Mosrati Mohamed Ali, Elloumi Ines, Tlili Abdelaziz, Aifa Sami, Masmoudi Saber

Abstract excerpt

Hereditary hearing impairment (HI) is a common disease with the highest incidence among sensory defects. Several genes have been identified to affect stereocilia structure causing HI, including the unconventional myosin3A. Interestingly, we noticed that variants in MYO3A gene have been previously found to cause variable HI onset and severity. Using clinical exome sequencing, we identified a novel pathogenic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34423747
DOI: 10.1080/07391102.2021.1953600

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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