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
Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant
|Author:||Bharadwaj, Thashi1; Schrauwen, Isabelle1; Acharya, Anushree1;|
1Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY, USA
2Northern Finland Laboratory Centre NordLab and Medical Research Centre, Oulu University Hospital and University of Oulu, Oulu, Finland
3Department of Clinical Genetics, PEDEGO Research Unit and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland
4Institute of Biomedicine, University of Turku, Turku, Finland
5Department of Medical Genetics, University of Helsinki, Helsinki, Finland
6Department of Otorhinolaryngology, Kainuu Central Hospital, Kajaani, Finland
7Taub Institute for Alzheimer’s Disease and the Aging Brain, Columbia University Medical Center, New York, NY, USA
|Online Access:||PDF Full Text (PDF, 0.6 MB)|
|Persistent link:|| http://urn.fi/urn:nbn:fi-fe2022090957966
John Wiley & Sons,
|Publish Date:|| 2022-09-09
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.
Molecular genetics & genomic medicine
|Type of Publication:||
A1 Journal article – refereed
|Field of Science:||
3125 Otorhinolaryngology, ophthalmology
This work was supported by the National Institute of Health and Other Communication Disorders (grant nos. R01 DC011651 and R01 DC003594 to SML).
© 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.