Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment.

doi:10.3390/genes11111249

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Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment.

Genes - 23 Oct 2020

Wonkam-Tingang Edmond, Schrauwen Isabelle, Esoh Kevin K, Bharadwaj Thashi, Nouel-Saied Liz M, Acharya Anushree, Nasir Abdul, Adadey Samuel M, Mowla Shaheen, Leal Suzanne M, Wonkam Ambroise

Abstract excerpt

DNA samples from five members of a multiplex non-consanguineous Cameroonian family, segregating prelingual and progressive autosomal recessive non-syndromic sensorineural hearing impairment, underwent whole exome sequencing. We identified novel bi-allelic compound heterozygous pathogenic variants in CLIC5. The variants identified, i.e., the missense [NM_016929.5:c.224T>C; p.(L75P)] and the splicing...

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PMID: 33114113
DOI: 10.3390/genes11111249
PMCID: PMC7690789

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