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Article

A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.

Human genetics - 1 Jan 2017

Pater Justin A, Benteau Tammy, Griffin Anne, Penney Cindy, Stanton Susan G, Predham Sarah, Kielley Bernadine, Squires Jessica, Zhou Jiayi, Li Quan, Abdelfatah Nelly, O'Rielly Darren D, Young Terry-Lynn

Abstract excerpt

Genetic isolates provide unprecedented opportunities to identify pathogenic mutations and explore the full natural history of clinically heterogeneous phenotypes such as hearing loss. We noticed a unique audioprofile, characterized by prelingual and rapid deterioration of hearing thresholds at frequencies >0.5 kHz in several adults from unrelated families from the island population of Newfoundland. Targeted...

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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: 27838790
DOI: 10.1007/s00439-016-1746-7
PMCID: PMC5215284

Genes

CLDN14

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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