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Article

Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.

American journal of medical genetics. Part A - 1 May 2024

Lo Emma, Blair Justin, Yamamoto Nobuko, Diaz-Miranda Maria Alejandra, Bedoukian Emma, Gray Christopher, Lawrence Audrey, Dedhia Kavita, Elden Lisa M, Germiller John A, Kazahaya Ken, Sobol Steven E, Luo Minjie, Krantz Ian D, Hartman Tiffiney R

Abstract excerpt

MPZL2-related hearing loss is a rare form of autosomal recessive hearing loss characterized by progressive, mild sloping to severe sensorineural hearing loss. Thirty-five previously reported patients had biallelic truncating variants in MPZL2, with the exception of one patient with a missense variant of uncertain significance and a truncating variant. Here, we describe the clinical characteristics and genotypes...

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Share to Cell Adhesion Molecules
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

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Identifiers

PMID: 38197511
DOI: 10.1002/ajmg.a.63530

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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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