{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T01:19:51Z","timestamp":1784078391483,"version":"3.55.0"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,2,11]],"date-time":"2022-02-11T00:00:00Z","timestamp":1644537600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The genetic architecture of hearing impairment in Finland is largely unknown. Here, we investigated two Finnish families with autosomal recessive nonsyndromic symmetrical moderate\u2010to\u2010severe hearing impairment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Exome and custom capture next\u2010generation sequencing were used to detect the underlying cause of hearing impairment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In both Finnish families, we identified a homozygous pathogenic splice site variant c.637+1G&gt;T in <jats:italic>CAPB2<\/jats:italic> that is known to cause autosomal recessive nonsyndromic hearing impairment. Four <jats:italic>CABP2<\/jats:italic> 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&gt;T is the most prevalent. The c.637+1G&gt;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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We report two Finnish families with hearing impairment due to the <jats:italic>CABP2<\/jats:italic>\u00a0splice site variant c.637+1G&gt;T.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1866","type":"journal-article","created":{"date-parts":[[2022,2,12]],"date-time":"2022-02-12T07:39:17Z","timestamp":1644651557000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched <i>CABP2<\/i> c.637+1G&gt;T variant"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7870-5655","authenticated-orcid":false,"given":"Thashi","family":"Bharadwaj","sequence":"first","affiliation":[{"name":"Center for Statistical Genetics Gertrude H. Sergievsky Center, and the Department of Neurology Columbia University Medical Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7310-6082","authenticated-orcid":false,"given":"Isabelle","family":"Schrauwen","sequence":"additional","affiliation":[{"name":"Center for Statistical Genetics Gertrude H. Sergievsky Center, and the Department of Neurology Columbia University Medical Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1889-8723","authenticated-orcid":false,"given":"Anushree","family":"Acharya","sequence":"additional","affiliation":[{"name":"Center for Statistical Genetics Gertrude H. Sergievsky Center, and the Department of Neurology Columbia University Medical Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0378-7788","authenticated-orcid":false,"given":"Liz M.","family":"Nouel\u2010Saied","sequence":"additional","affiliation":[{"name":"Center for Statistical Genetics Gertrude H. Sergievsky Center, and the Department of Neurology Columbia University Medical Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marja\u2010Leena","family":"V\u00e4is\u00e4nen","sequence":"additional","affiliation":[{"name":"Northern Finland Laboratory Centre NordLab and Medical Research Centre Oulu University Hospital and University of Oulu  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8072-699X","authenticated-orcid":false,"given":"Minna","family":"Kraatari","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics PEDEGO Research Unit and Medical Research Center Oulu Oulu University Hospital and University of Oulu  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Rahikkala","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics PEDEGO Research Unit and Medical Research Center Oulu Oulu University Hospital and University of Oulu  Oulu Finland"},{"name":"Institute of Biomedicine University of Turku  Turku Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irma","family":"Jarvela","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jouko","family":"Kotim\u00e4ki","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Kainuu Central Hospital  Kajaani Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1231-8174","authenticated-orcid":false,"given":"Suzanne M.","family":"Leal","sequence":"additional","affiliation":[{"name":"Center for Statistical Genetics Gertrude H. Sergievsky Center, and the Department of Neurology Columbia University Medical Center  New York NY USA"},{"name":"Taub Institute for Alzheimer\u2019s Disease and the Aging Brain Columbia University Medical Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,2,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.89"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010019\u20100417\u20102"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.205"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2007.142307"},{"key":"e_1_2_9_6_1","unstructured":"FinnGen(2021).{FinnGen} Documentation of R5 release. 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