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Article

Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2018

Almontashiri Naif A M, Alswaid Abdulrahman, Oza Andrea, Al-Mazrou Khalid A, Elrehim Omnia, Tayoun Ahmad Abou, Rehm Heidi L, Amr Sami S

Abstract excerpt

PurposeHearing loss is more prevalent in the Saudi Arabian population than in other populations; however, the full range of genetic etiologies in this population is unknown. We report the genetic findings from 33 Saudi hearing-loss probands of tribal ancestry, with predominantly prelingual severe to profound hearing loss.MethodsTesting was performed over the course of 2012-2016, and involved initial GJB2 sequence...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 29048421
DOI: 10.1038/gim.2017.143
PMCID: PMC5929117

Genes

GJB2
OTOF
GJB6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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