{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:34:22Z","timestamp":1777660462633,"version":"3.51.4"},"reference-count":28,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2020,5,1]],"date-time":"2020-05-01T00:00:00Z","timestamp":1588291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:sec>\n                    <jats:title>Aims:<\/jats:title>\n                    <jats:p>To determine the clinical characteristics and genetic cause of Waardenburg syndrome type 1 (WS1) in a Chinese family.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods:<\/jats:title>\n                    <jats:p>Evaluations, including history, clinical features, and audiological tests, were performed on the proband and her parents. Genetic analyses were performed targeting 144 known deafness genes using a next-generation sequencing panel. Bioinformatic analyses were used to analyze the candidate mutation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      The proband and her parents suffered from congenital bilateral profound hearing loss. Her mother exhibited bilateral blue irides. WS1 was diagnosed in the proband and her mother according to the Waardenburg syndrome consortium criteria: the calculated W index of the proband was 2.39 and that of her mother was 2.31. A novel mutation c.1076_1077del (p.Thr359fs) in exon 7 of the\n                      <jats:italic toggle=\"yes\">PAX3<\/jats:italic>\n                      gene\n                      <jats:italic toggle=\"yes\">(paired box 3)<\/jats:italic>\n                      was identified in the proband and her mother that was absent in the father and controls.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>\n                      Mutations in exon 7 of the\n                      <jats:italic toggle=\"yes\">PAX3<\/jats:italic>\n                      gene are rare. We identified a novel frameshift mutation in exon 7 of the\n                      <jats:italic toggle=\"yes\">PAX3<\/jats:italic>\n                      gene that we determined was responsible for WS1 in this family.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/gtmb.2019.0231","type":"journal-article","created":{"date-parts":[[2020,4,6]],"date-time":"2020-04-06T10:18:36Z","timestamp":1586168316000},"page":"249-255","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["A Novel\n                    <i>PAX3<\/i>\n                    Mutation in a Chinese Family with Waardenburg Syndrome Type 1"],"prefix":"10.1177","volume":"24","author":[{"given":"Shuling","family":"Li","sequence":"first","affiliation":[{"name":"Department of Otolaryngology, 1st Affiliated Hospital of Kunming Medical University, Kunning, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, 1st Affiliated Hospital of Kunming Medical University, Kunning, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Biao","family":"Ruan","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, 1st Affiliated Hospital of Kunming Medical University, Kunning, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ya","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, 1st Affiliated Hospital of Kunming Medical University, Kunning, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Cui","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, 1st Affiliated Hospital of Kunming Medical University, Kunning, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weiwei","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, 1st Affiliated Hospital of Kunming Medical University, Kunning, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruomei","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, 1st Affiliated Hospital of Kunming Medical University, Kunning, China."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2020,5,7]]},"reference":[{"key":"e_1_3_6_2_1","first-page":"87","article-title":"Genetic heterogeneity in the Waardenburg syndrome","volume":"7","author":"Arias S","year":"1971","unstructured":"Arias S (1971) Genetic heterogeneity in the Waardenburg syndrome. Birth Defects Orig Artic Ser, 7:87-101.","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_3_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580205"},{"key":"e_1_3_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(99)00339-X"},{"key":"e_1_3_6_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/522090"},{"key":"e_1_3_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2018.04.087"},{"key":"e_1_3_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.3.248"},{"key":"e_1_3_6_8_1","first-page":"902","article-title":"Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium","volume":"50","author":"Farrer LA","year":"1992","unstructured":"Farrer LA, , Grundfast KM, , Amos J, et al. (1992) Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. 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