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Article

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

American journal of human genetics - 9 Jul 2010

Walsh Tom, Shahin Hashem, Elkan-Miller Tal, Lee Ming K, Thornton Anne M, Roeb Wendy, Abu Rayyan Amal, Loulus Suheir, Avraham Karen B, King Mary-Claire, Kanaan Moien

Abstract excerpt

Massively parallel sequencing of targeted regions, exomes, and complete genomes has begun to dramatically increase the pace of discovery of genes responsible for human disorders. Here we describe how exome sequencing in conjunction with homozygosity mapping led to rapid identification of the causative allele for nonsyndromic hearing loss DFNB82 in a consanguineous Palestinian family. After filtering out worldwide...

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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: 20602914
DOI: 10.1016/j.ajhg.2010.05.010
PMCID: PMC2896776

Genes

GPSM2

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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