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Article

Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family.

PloS one - 1 Jan 2015

Gao Juanjuan, Wang Qi, Dong Cheng, Chen Siqi, Qi Yu, Liu Yuhe

Abstract excerpt

We report the genetic analysis of autosomal dominant, nonsyndromic, progressive sensorineural hearing loss in a Chinese family. Using whole exome sequencing, we identified a missense variant (c.130C>T, p.R44C) in the MCM2 gene, which has a pro-apoptosis effect and is involved in the initiation of eukaryotic genome replication. This missense variant is very likely to be the disease causing variant. It segregated...

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Identifiers

PMID: 26196677
DOI: 10.1371/journal.pone.0133522
PMCID: PMC4510057

Genes

MCM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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