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

Molecular Genetics & Genomic Medicine

Suzanne M. Leal¹  Thashi Bharadwaj¹  Anushree Acharya¹  Isabelle Schrauwen¹  Liz M. Nouel‐Saied¹  Minna Kraatari²  Elisa Rahikkala²  Irma Jarvela³  Jouko Kotimäki⁴  Marja‐Leena Väisänen⁵ 

[1] Center for Statistical Genetics Gertrude H. Sergievsky Center, and the Department of Neurology Columbia University Medical Center New York NY USA;Department of Clinical Genetics PEDEGO Research Unit and Medical Research Center Oulu Oulu University Hospital and University of Oulu Oulu Finland;Department of Medical Genetics University of Helsinki Helsinki Finland;Department of Otorhinolaryngology Kainuu Central Hospital Kajaani Finland;Northern Finland Laboratory Centre NordLab and Medical Research Centre Oulu University Hospital and University of Oulu Oulu Finland;

关键词: autosomal recessive;    CABP2;    hearing impairment;   

DOI  :  10.1002/mgg3.1866

来源: DOAJ

【 摘 要 】

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 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. Conclusion We report two Finnish families with hearing impairment due to the CABP2 splice site variant c.637+1G>T.

【 授权许可】

Unknown