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Article

Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss.

BMC medical genomics - 2 Jan 2024

Zheng Kaifeng, Lin Sheng, Gao Jian, Chen Shiguo, Su Jindi, Liu Zhiqiang, Duan Shan

Abstract excerpt

BACKGROUND: Hereditary hearing loss is a highly heterogeneous disorder. This study aimed to identify the genetic cause of a Chinese family with autosomal recessive non-syndromic sensorineural hearing loss (ARNSHL). METHODS: Clinical information and peripheral blood samples were collected from the proband and its parents. Two-step high-throughput next-generation sequencing on the Ion Torrent platform was applied...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38167320
DOI: 10.1186/s12920-023-01777-4
PMCID: PMC10763153

Provenance

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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