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Article

Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF.

BMC medical genetics - 2 Jan 2020

Khalil Athar, Karroum Samer Bou, Barake Rana, Dunya Gabriel, Abou-Rizk Samer, Kamar Amina, Nemer Georges, Bassim Marc

Abstract excerpt

BACKGROUND: Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1-5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other disorder accounting for 70% of all genetic hearing loss cases. METHODS: In the current study, we reported a polygenic mode of inheritance in an NSHL consanguineous family using exome sequencing...

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Identifiers

PMID: 31898538
DOI: 10.1186/s12881-019-0942-4
PMCID: PMC6941291

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