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Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G > T variant

Bharadwaj Thashi; Rahikkala Elisa; Jarvela Irma; Acharya Anushree; Schrauwen Isabelle; Väisänen Marja-Leena; Leal Suzanne M.; Kotimäki Jouko; Nouel-Saied Liz M.; Kraatari Minna

dc.contributor.authorBharadwaj Thashi
dc.contributor.authorRahikkala Elisa
dc.contributor.authorJarvela Irma
dc.contributor.authorAcharya Anushree
dc.contributor.authorSchrauwen Isabelle
dc.contributor.authorVäisänen Marja-Leena
dc.contributor.authorLeal Suzanne M.
dc.contributor.authorKotimäki Jouko
dc.contributor.authorNouel-Saied Liz M.
dc.contributor.authorKraatari Minna
dc.date.accessioned2022-10-28T13:36:21Z
dc.date.available2022-10-28T13:36:21Z
dc.identifier.urihttps://www.utupub.fi/handle/10024/166148
dc.description.abstract<p><strong>Background</strong>: The genetic architecture of hearing impairment in Finland is largely unknown. Here, we investigated two Finnish families with autosomal recessive nonsyndromic symmetrical moderate-to-severe hearing impairment.</p><p><strong>Methods</strong>: Exome and custom capture next-generation sequencing were used to detect the underlying cause of hearing impairment.</p><p><strong>Results</strong>: In both Finnish families, we identified a homozygous pathogenic splice site variant c.637+1G>T in CAPB2 that is known to cause autosomal recessive nonsyndromic hearing impairment. Four CABP2 variants have been reported to underlie autosomal recessive nonsyndromic hearing impairment in eight families from Iran, Turkey, Pakistan, Italy, and Denmark. Of these variants, the pathogenic splice site variant c.637+1G>T is the most prevalent. The c.637+1G>T variant is enriched in the Finnish population, which has undergone multiple bottlenecks that can lead to the higher frequency of certain variants including those involved in disease.</p><p><strong>Conclusion</strong>: We report two Finnish families with hearing impairment due to the CABP2 splice site variant c.637+1G>T.</p>
dc.language.isoen
dc.publisherWILEY
dc.titleAutosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G > T variant
dc.identifier.urlhttps://onlinelibrary.wiley.com/doi/10.1002/mgg3.1866
dc.identifier.urnURN:NBN:fi-fe2022081154565
dc.relation.volume10
dc.contributor.organizationfi=kliinisen laitoksen yhteiset|en=Department of Clinical Medicine|
dc.contributor.organization-code2607300
dc.converis.publication-id175034215
dc.converis.urlhttps://research.utu.fi/converis/portal/Publication/175034215
dc.identifier.eissn2324-9269
dc.identifier.jour-issn2324-9269
dc.okm.affiliatedauthorRahikkala, Elisa
dc.okm.discipline3111 Biomedicineen_GB
dc.okm.discipline3111 Biolääketieteetfi_FI
dc.okm.internationalcopublicationinternational co-publication
dc.okm.internationalityInternational publication
dc.okm.typeJournal article
dc.publisher.countryUnited Statesen_GB
dc.publisher.countryYhdysvallat (USA)fi_FI
dc.publisher.country-codeUS
dc.relation.articlenumbere1866
dc.relation.doi10.1002/mgg3.1866
dc.relation.ispartofjournalMolecular Genetics and Genomic Medicine
dc.relation.issue3
dc.year.issued2022


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