Universidad Peruana Cayetano Heredia

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

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dc.contributor.author Ramzan, Memoona
dc.contributor.author Duman, Duygu
dc.contributor.author Hendricks, LeShon Chere Peart
dc.contributor.author Guo, Shengru
dc.contributor.author Mutlu, Ahmet
dc.contributor.author Kalcioglu, Mahmut Tayyar
dc.contributor.author Seyhan, Serhat
dc.contributor.author Carranza, Claudia
dc.contributor.author Bonyadi, Murtaza
dc.contributor.author Mahdieh, Nejat
dc.contributor.author Yildirim-Baylan, Muzeyyen
dc.contributor.author Figueroa Ildefonso, Erick Gianpierre
dc.contributor.author Alper, Ozgul
dc.contributor.author Atik, Tahir
dc.contributor.author Ayral, Abdurrahman
dc.contributor.author Bozan, Nazim
dc.contributor.author Balta, Burhan
dc.contributor.author Rivas, Christian
dc.contributor.author Manzoli, Gabrielle N.
dc.contributor.author Huesca-Hernandez, Fabiola
dc.contributor.author Kuchay, Raja A. H.
dc.contributor.author Durgut, Merve
dc.contributor.author Bademci, Guney
dc.contributor.author Tekin, Mustafa
dc.date.accessioned 2023-06-12T16:25:54Z
dc.date.available 2023-06-12T16:25:54Z
dc.date.issued 2023
dc.identifier.uri https://hdl.handle.net/20.500.12866/13603
dc.description.abstract 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 addition, upon review of phenotypic findings, 38/322 probands were excluded based on syndromic findings at the time of ascertainment and no further evaluation was performed on those samples. We performed ES as a primary diagnostic tool on one or two affected individuals from 212/226 families. Via ES we detected a total of 78 variants in 30 genes and showed their co-segregation with HL in 71 affected families. Most of the variants were frameshift or missense and affected individuals were either homozygous or compound heterozygous in their respective families. We employed GS as a primary test on a subset of 14 families and a secondary tool on 22 families which were unsolved by ES. Although the cumulative detection rate of causal variants by ES and GS is 40% (89/226), GS alone has led to a molecular diagnosis in 7 of 14 families as the primary tool and 5 of 22 families as the secondary test. GS successfully identified variants present in deep intronic or complex regions not detectable by ES. en_US
dc.language.iso eng
dc.publisher Springer
dc.relation.ispartofseries Journal of Human Genetics
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Genetics en_US
dc.subject Next-generation sequencing en_US
dc.subject.mesh Genética
dc.subject.mesh Secuenciación de Nucleótidos de Alto Rendimiento
dc.title Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss. en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1038/s10038-023-01159-9
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.01.02
dc.relation.issn 1435-232X


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