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

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dc.contributor.authorRamzan, Memoona
dc.contributor.authorDuman, Duygu
dc.contributor.authorHendricks, LeShon Chere Peart
dc.contributor.authorGuo, Shengru
dc.contributor.authorMutlu, Ahmet
dc.contributor.authorKalcioglu, Mahmut Tayyar
dc.contributor.authorSeyhan, Serhat
dc.date.accessioned2024-04-24T16:24:03Z
dc.date.available2024-04-24T16:24:03Z
dc.date.issued2023
dc.departmentDicle Üniversitesien_US
dc.description.abstractHearing 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.description.sponsorshipDNA-Neurogenetics Bank of the Instituto Nacional de Ciencias Neurologicas; NIH [R01DC009645]en_US
dc.description.sponsorshipWe are grateful to the participating families included in this study. We thank all physicians, genetic counselors, and audiologists for providing all the relevant information. We are grateful to the DNA-Neurogenetics Bank of the Instituto Nacional de Ciencias Neurologicas for supporting the collection of DNA samples and associated data used in this publication. The content of this publication does not reflect the opinion of the DNA-Neurogenetics Bank. This work was supported by the NIH R01DC009645 grant to MT.en_US
dc.identifier.doi10.1038/s10038-023-01159-9
dc.identifier.endpage669en_US
dc.identifier.issn1434-5161
dc.identifier.issn1435-232X
dc.identifier.issue10en_US
dc.identifier.pmid37217689
dc.identifier.scopus2-s2.0-85160024712
dc.identifier.scopusqualityQ1
dc.identifier.startpage657en_US
dc.identifier.urihttps://doi.org/10.1038/s10038-023-01159-9
dc.identifier.urihttps://hdl.handle.net/11468/16441
dc.identifier.volume68en_US
dc.identifier.wosWOS:000992386100002
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherSpringernatureen_US
dc.relation.ispartofJournal of Human Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subject[No Keyword]en_US
dc.titleGenome sequencing identifies coding and non-coding variants for non-syndromic hearing lossen_US
dc.titleGenome sequencing identifies coding and non-coding variants for non-syndromic hearing loss
dc.typeArticleen_US

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