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Article

A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred.

BMC medical genomics - 4 Jan 2021

Ahmed Ashfaque, Wang Meng, Khan Rizwan, Shah Abid Ali, Guo Hui, Malik Sajid, Xia Kun, Hu Zhengmao

Abstract excerpt

BACKGROUND: Hearing loss/deafness is a common otological disorder found in the Pakistani population due to the high prevalence of consanguineous unions, but the full range of genetic causes is still unknown. METHODS: A large consanguineous Pakistani kindred with hearing loss was studied. Whole-exome sequencing and Sanger sequencing were performed to search for the candidate gene underlying the disease phenotype....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33397372
DOI: 10.1186/s12920-020-00859-x
PMCID: PMC7784026

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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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