Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched <em>CABP2</em> c.637+1G>T variant
Bharadwaj, Thashi; Schrauwen, Isabelle; Acharya, Anushree; Nouel-Saied, Liz M.; Väisänen, Marja-Leena; Kraatari, Minna; Rahikkala, Elisa; Järvelä, Irma; Kotimäki, Jouko; Leal, Suzanne M. (2022-03-15)
Bharadwaj, T., Schrauwen, I., Acharya, A., Nouel-Saied, L. M., Väisänen, M.-L., Kraatari, M., Rahikkala, E., Jarvela, I., Kotimäki, J., & Leal, S. M. (2022). Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant. Molecular Genetics & Genomic Medicine, 10, e1866. https://doi.org/10.1002/mgg3.1866
© 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
https://creativecommons.org/licenses/by/4.0/
https://urn.fi/URN:NBN:fi-fe2022090957966
Tiivistelmä
Abstract
Background: 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.
Methods: Exome and custom capture next-generation sequencing were used to detect the underlying cause of hearing impairment.
Results: In both Finnish families, we identified a homozygous pathogenic splice site variant c.637+1G>T in CABP2 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+1Ggt;T is the most prevalent. The c.637+1Ggt;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.
Conclusion: We report two Finnish families with hearing impairment due to the CABP2 splice site variant c.637+1Ggt;T.
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