{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:46:41Z","timestamp":1786978001747,"version":"build-2736575974"},"reference-count":40,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,9,26]],"date-time":"2022-09-26T00:00:00Z","timestamp":1664150400000},"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":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Variants in the\n                      <jats:italic>MYO7A<\/jats:italic>\n                      gene are increasingly identified among patients suffering from Usher syndrome type 1B (USH1B). However, such mutations are less commonly detected among patients suffering from nonsyndromic hearing loss (NSHL), including autosomal recessive deafness (DFNB2) and autosomal dominant deafness (DFNA11). This research attempts to clarify the genetic base of DFNB2 in a Chinese family and determine the pathogenicity of the identified mutations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>\n                      Targeted next\u2010generation sequencing (TGS) of 127 known deafness genes was performed for the 14\u2010year\u2010old proband. Then, Sanger sequencing was performed on the available family members. A minigene splicing assay was performed to verify the impact of the novel\n                      <jats:italic>MYO7A<\/jats:italic>\n                      synonymous variant. After performing targeted next\u2010generation sequencing (TGS) of 127 existing hearing loss\u2010related genes in a 14\u2010year\u2010old proband, Sanger sequencing was carried out on the available family members. Then, to confirm the influence of the novel\n                      <jats:italic>MYO7A<\/jats:italic>\n                      synonymous variants, a minigene splicing assay was performed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Two heteroallelic mutants of\n                      <jats:italic>MYO7A<\/jats:italic>\n                      (NM_000260.3) were identified: a maternally inherited synonymous variant c.2904G\u2009&gt;\u2009A (p.Glu968=) in exon 23 and a paternally inherited missense variant c.5994G\u2009&gt;\u2009T (p.Trp1998Cys) in exon 44. The in vitro minigene expression indicated that c.2904G\u2009&gt;\u2009A may result in skipping of exon 23 resulting in a truncated protein.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We reported a novel missense (c.5994G\u2009&gt;\u2009T) and identified, for the first time, a novel pathogenic synonymous (c.2904G\u2009&gt;\u2009A) variant within\n                      <jats:italic>MYO7A<\/jats:italic>\n                      in a patient with DFNB2. These findings enrich our understanding of the\n                      <jats:italic>MYO7A<\/jats:italic>\n                      variant spectrum of DFNB2 and can contribute to accurate genetic counseling and diagnosis of NSHL patients.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jcla.24708","type":"journal-article","created":{"date-parts":[[2022,9,27]],"date-time":"2022-09-27T02:49:52Z","timestamp":1664246992000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Novel compound heterozygous synonymous and missense variants in the\n                    <i>MYO7A<\/i>\n                    gene identified by next\u2010generation sequencing in a Chinese family with nonsyndromic hearing loss"],"prefix":"10.1002","volume":"36","author":[{"given":"Yanbao","family":"Xiang","sequence":"first","affiliation":[{"name":"Department of Genetics, Key Laboratory of Birth Defects of Wenzhou Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chenyang","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Genetics, Key Laboratory of Birth Defects of Wenzhou Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunzhi","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Genetics, Key Laboratory of Birth Defects of Wenzhou Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lili","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Genetics, Key Laboratory of Birth Defects of Wenzhou Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2918-8532","authenticated-orcid":false,"given":"Shaohua","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Genetics, Key Laboratory of Birth Defects of Wenzhou Wenzhou Central Hospital  Wenzhou China"},{"name":"Department of Clinical Laboratory Medicine, Key Laboratory of Precision Medicine of Wenzhou Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5861-1301","authenticated-orcid":false,"given":"Xueqin","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Genetics, Key Laboratory of Birth Defects of Wenzhou Wenzhou Central Hospital  Wenzhou China"},{"name":"Department of Clinical Laboratory Medicine, Key Laboratory of Precision Medicine of Wenzhou Wenzhou Central Hospital  Wenzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,9,26]]},"reference":[{"key":"e_1_2_9_2_1","unstructured":"MathersC BoermaT MaFat D.The global burden of disease 2004. 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