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Article

Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2015

Kim Nayoung K D, Kim Ah Reum, Park Kyung Tae, Kim So Young, Kim Min Young, Nam Jae-Yong, Woo Se Joon, Oh Seung-Ha, Park Woong-Yang, Choi Byung Yoon

Abstract excerpt

PURPOSE: This study was designed to delineate genetic contributions, if any, to sporadic forms of mild to moderate sensorineural hearing loss (SNHL) not related to GJB2 mutations (DFNB1) in a pediatric population. METHODS: We recruited 11 non-DFNB1 simplex cases of mild to moderate SNHL in children. We applied whole-exome sequencing to all 11 probands. We used a filtering strategy assuming that de novo variants...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25719458
DOI: 10.1038/gim.2014.213

Genes

MYH14
GJB2
OTOGL
SERPINB6
TECTA

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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