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Article

Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.

Journal of human genetics - 1 Oct 2023

Ramzan Memoona, Duman Duygu, Hendricks LeShon Chere Peart, Guo Shengru, Mutlu Ahmet, Kalcioglu Mahmut Tayyar, Seyhan Serhat, Carranza Claudia, Bonyadi Murtaza, Mahdieh Nejat, Yildirim-Baylan Muzeyyen, Figueroa-Ildefonso Erick, Alper Ozgul, Atik Tahir, Ayral Abdurrahman, Bozan Nazim, Balta Burhan, Rivas Christian, Manzoli Gabrielle N, Huesca-Hernandez Fabiola, Kuchay Raja A H, Durgut Merve, Bademci Guney, Tekin Mustafa

Abstract excerpt

Hearing loss (HL) is a common heterogeneous trait that involves variants in more than 200 genes. In this study, we utilized exome (ES) and genome sequencing (GS) to effectively identify the genetic cause of presumably non-syndromic HL in 322 families from South and West Asia and Latin America. Biallelic GJB2 variants were identified in 58 probands at the time of enrollment these probands were excluded. In...

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Deafness
Hearing Loss
Homozygote
Mutation

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PMID: 37217689
DOI: 10.1038/s10038-023-01159-9

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