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Article

Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss.

Molecular biology reports - 1 Jul 2020

Sarmadi Akram, Nasrniya Samane, Narrei Sina, Nouri Zahra, Abtahi Hamidreza, Tabatabaiefar Mohammad Amin

Abstract excerpt

Autosomal recessive non-syndromic hearing loss (ARNSHL) is a highly heterogeneous disease, for which more than 70 genes have been identified. MYO15A mutations have been reported to cause congenital severe-to-profound HL. In this study, we applied the whole exome sequencing (WES) to find the cause of HL in an Iranian family. A proband from an Iranian non-consanguineous family with hearing impaired parents, was...

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Identifiers

PMID: 32623615
DOI: 10.1007/s11033-020-05618-w

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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