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Article

A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.

Journal of human genetics - 1 Dec 2014

Siddiqi Saima, Ismail Muhammad, Oostrik Jaap, Munawar Saba, Mansoor Atika, Kremer Hannie, Qamar Raheel, Schraders Margit

Abstract excerpt

With homozygosity mapping we have identified two large homozygous regions on chromosome 3q13.11-q13.31 and chromosome 19p13.3-q31.32 in a large Pakistani family suffering from autosomal recessive nonsyndromic hearing impairment (arNSHI). The region on chromosome 19 overlaps with the previously described deafness loci DFNB15, DFNB72 and DFNB95. Mutations in GIPC3 have been shown to underlie the nonsyndromic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25296581
DOI: 10.1038/jhg.2014.86

Genes

GIPC3

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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