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Article

Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss.

Hereditas - 24 Nov 2020

Yu Jing, Jiang Wei, Cao Li, Na Xiaoxue, Yang Jiyun

Abstract excerpt

Mutations in HARS2 are one of the genetic causes of Perrault syndrome, characterized by sensorineural hearing loss (SNHL) and ovarian dysfunction. Here, we identified two novel putative pathogenic variants of HARS2 in a Chinese family with sensorineural hearing loss including two affected male siblings, c.349G > A (p.Asp117Asn) and c.908 T > C (p.Leu303Pro), through targeted next-generation sequencing methods....

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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: 33228777
DOI: 10.1186/s41065-020-00157-7
PMCID: PMC7684720

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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