A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.

doi:10.1038/s41431-020-00790-w

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Article

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.

European journal of human genetics : EJHG - 1 Jun 2021

Hirsch Yoel, Tangshewinsirikul Chayada, Booth Kevin T, Azaiez Hela, Yefet Devorah, Quint Adina, Weiden Tzvi, Brownstein Zippora, Macarov Michal, Davidov Bella, Pappas John, Rabin Rachel, Kenna Margaret A, Oza Andrea M, Lafferty Katherine, Amr Sami S, Rehm Heidi L, Kolbe Diana L, Frees Kathy, Nishimura Carla, Luo Minjie, Farra Chantal, Morton Cynthia C, Scher Sholem Y, Ekstein Josef, Avraham Karen B, Smith Richard J H, Shen Jun

Abstract excerpt

Nonsyndromic hearing loss is genetically heterogeneous. Despite comprehensive genetic testing, many cases remain unsolved because the clinical significance of identified variants is uncertain or because biallelic pathogenic variants are not identified for presumed autosomal recessive cases. Common synonymous variants are often disregarded. Determining the pathogenicity of synonymous variants may improve genetic...

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PMID: 33398081
DOI: 10.1038/s41431-020-00790-w
PMCID: PMC8187401

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

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