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Article

Variants of human CLDN9 cause mild to profound hearing loss.

Human mutation - 1 Oct 2021

Ramzan Memoona, Philippe Christophe, Belyantseva Inna A, Nakano Yoko, Fenollar-Ferrer Cristina, Tona Risa, Yousaf Rizwan, Basheer Rasheeda, Imtiaz Ayesha, Faridi Rabia, Munir Zunaira, Idrees Hafiza, Salman Midhat, Nambot Sophie, Vitobello Antonio, Kartti Souad, Zarrik Oumaima, Witmer P Dane, Sobreria Nara, Ibrahimi Azeddine, Banfi Botond, Moutton Sebastien, Friedman Thomas B, Naz Sadaf

Abstract excerpt

Hereditary deafness is clinically and genetically heterogeneous. We investigated deafness segregating as a recessive trait in two families. Audiological examinations revealed an asymmetric mild to profound hearing loss with childhood or adolescent onset. Exome sequencing of probands identified a homozygous c.475G>A;p.(Glu159Lys) variant of CLDN9 (NM_020982.4) in one family and a homozygous...

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PMID: 34265170
DOI: 10.1002/humu.24260
PMCID: PMC8435009

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