A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.

doi:10.1007/s00439-020-02254-z

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Article

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.

Human genetics - 1 Jun 2021

Vona Barbara, Mazaheri Neda, Lin Sheng-Jia, Dunbar Lucy A, Maroofian Reza, Azaiez Hela, Booth Kevin T, Vitry Sandrine, Rad Aboulfazl, Rüschendorf Franz, Varshney Pratishtha, Fowler Ben, Beetz Christian, Alagramam Kumar N, Murphy David, Shariati Gholamreza, Sedaghat Alireza, Houlden Henry, Petree Cassidy, VijayKumar Shruthi, Smith Richard J H, Haaf Thomas, El-Amraoui Aziz, Bowl Michael R, Varshney Gaurav K, Galehdari Hamid

Abstract excerpt

Deafness, the most frequent sensory deficit in humans, is extremely heterogeneous with hundreds of genes involved. Clinical and genetic analyses of an extended consanguineous family with pre-lingual, moderate-to-profound autosomal recessive sensorineural hearing loss, allowed us to identify CLRN2, encoding a tetraspan protein, as a new deafness gene. Homozygosity mapping followed by exome sequencing identified a...

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PMID: 33496845
DOI: 10.1007/s00439-020-02254-z
PMCID: PMC8099798

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