{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,9]],"date-time":"2025-12-09T18:47:36Z","timestamp":1765306056698,"version":"3.46.0"},"reference-count":30,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,8,10]],"date-time":"2022-08-10T00:00:00Z","timestamp":1660089600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      The most common inheritance pattern responsible for congenital deafness belongs to autosomal recessive non\u2010syndromic hearing loss (ARNSHL) and mutations of the highly heterogeneous\n                      <jats:italic>MYO15A<\/jats:italic>\n                      locus are present in a large proportion of cases.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>One Chinese family with ARNSHL was subjected to clinical evaluation and genetic analysis. We used targeted and whole exome sequencing with Sanger sequencing to identify and characterize mutations. Bioinformatics analysis was conducted to evaluate molecular functions.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Three compound heterozygous\n                      <jats:italic>MYO15A<\/jats:italic>\n                      gene variants, including two novel variants, c.6804G\u2009&gt;\u2009A (p.M2268I), and c.6188_6190delinsGTCA (p.F2063Cfs*60), responsible for deafness were identified. Pathogenicity was assessed by multiple bioinformatics analyses.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We identified novel mutations of the\n                      <jats:italic>MYO15A<\/jats:italic>\n                      locus associated with ARNSHL in a Chinese family. The current findings expand the\n                      <jats:italic>MYO15A<\/jats:italic>\n                      pathogenic mutation spectrum to assist with genetic counseling and prenatal diagnosis.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jcla.24653","type":"journal-article","created":{"date-parts":[[2022,8,11]],"date-time":"2022-08-11T00:19:50Z","timestamp":1660177190000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of novel compound heterozygous mutations of the\n                    <i>MYO15A<\/i>\n                    gene with autosomal recessive non\u2010syndromic hearing loss"],"prefix":"10.1002","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0210-3738","authenticated-orcid":false,"given":"Luming","family":"Wang","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Center Jiaxing Maternity and Child Health Care Hospital  Jiaxing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yue","family":"Zhang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Jiaxing Maternity and Child Health Care Hospital  Jiaxing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiuxia","family":"Xue","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Jiaxing Maternity and Child Health Care Hospital  Jiaxing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pinghua","family":"Huang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Jiaxing Maternity and Child Health Care Hospital  Jiaxing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaodan","family":"Liu","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Jiaxing Maternity and Child Health Care Hospital  Jiaxing 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