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One of the unique characteristics of\n                    <jats:italic>STRC<\/jats:italic>\n                    -associated hearing loss is the high prevalence of long deletions or copy number variations observed on chromosome 15q15.3. Further, the deletion of chromosome 15q15.3 from\n                    <jats:italic>STRC<\/jats:italic>\n                    to\n                    <jats:italic>CATSPER2<\/jats:italic>\n                    is also known to be a genetic cause of deafness infertility syndrome (DIS), which is associated with not only hearing loss but also male infertility, as\n                    <jats:italic>CATSPER2<\/jats:italic>\n                    plays crucial roles in sperm motility. Thus, information regarding the deletion range for each patient is important to the provision of appropriate genetic counselling for hearing loss and male infertility. In the present study, we performed next-generation sequencing (NGS) analysis for 9956 Japanese hearing loss patients and analyzed copy number variations in the\n                    <jats:italic>STRC<\/jats:italic>\n                    gene based on NGS read depth data. In addition, we performed Multiplex Ligation-dependent Probe Amplification analysis to determine the deletion range including the\n                    <jats:italic>PPIP5K1<\/jats:italic>\n                    ,\n                    <jats:italic>CKMT1B<\/jats:italic>\n                    ,\n                    <jats:italic>STRC<\/jats:italic>\n                    and\n                    <jats:italic>CATSPER2<\/jats:italic>\n                    genomic region to estimate the prevalence of the\n                    <jats:italic>STRC<\/jats:italic>\n                    -\n                    <jats:italic>CATSPER<\/jats:italic>\n                    deletion, which is causative for DIS among the\n                    <jats:italic>STRC<\/jats:italic>\n                    -associated hearing loss patients. As a result, we identified 276 cases with\n                    <jats:italic>STRC<\/jats:italic>\n                    -associated hearing loss. The prevalence of\n                    <jats:italic>STRC<\/jats:italic>\n                    -associated hearing loss in Japanese hearing loss patients was 2.77% (276\/9956). In addition, 77.1% of cases with\n                    <jats:italic>STRC<\/jats:italic>\n                    homozygous deletions carried a two copy loss of the entire\n                    <jats:italic>CKMT1B-STRC-CATSPER2<\/jats:italic>\n                    gene region. This information will be useful for the provision of more appropriate genetic counselling regarding hearing loss and male infertility for the patients with a\n                    <jats:italic>STRC<\/jats:italic>\n                    deletion.\n                  <\/jats:p>","DOI":"10.1038\/s41598-021-04688-5","type":"journal-article","created":{"date-parts":[[2022,1,12]],"date-time":"2022-01-12T06:02:59Z","timestamp":1641967379000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients"],"prefix":"10.1038","volume":"12","author":[{"given":"Shin-ya","family":"Nishio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin-ichi","family":"Usami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,1,12]]},"reference":[{"key":"4688_CR1","doi-asserted-by":"publisher","first-page":"2151","DOI":"10.1056\/NEJMra050700","volume":"354","author":"CC Morton","year":"2006","unstructured":"Morton, C. 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