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Article

Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.

Clinical genetics - 1 Mar 2009

Choi B Y, Ahmed Z M, Riazuddin S, Bhinder M A, Shahzad M, Husnain T, Riazuddin S, Griffith A J, Friedman T B

Abstract excerpt

Mutations in OTOF, encoding otoferlin, cause non-syndromic recessive hearing loss. The goal of our study was to define the identities and frequencies of OTOF mutations in a model population. We screened a cohort of 557 large consanguineous Pakistani families segregating recessive, severe-to-profound, prelingual-onset deafness for linkage to DFNB9. There were 13 families segregating deafness consistent with...

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Identifiers

PMID: 19250381
DOI: 10.1111/j.1399-0004.2008.01128.x
PMCID: PMC3461579

Genes

OTOF

Variants

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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Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.PMID 19250381Read ↗

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