{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T04:46:38Z","timestamp":1761108398319,"version":"3.40.3"},"reference-count":17,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2025,1,24]],"date-time":"2025-01-24T00:00:00Z","timestamp":1737676800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82271889","82371173"],"award-info":[{"award-number":["82271889","82371173"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2021YFC2701001"],"award-info":[{"award-number":["2021YFC2701001"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100018625","name":"Science and Technology Innovation Plan Of Shanghai Science and Technology Commission","doi-asserted-by":"publisher","award":["23ZR1409400"],"award-info":[{"award-number":["23ZR1409400"]}],"id":[{"id":"10.13039\/501100018625","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["21DZ2200700"],"award-info":[{"award-number":["21DZ2200700"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,4,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Waardenburg syndrome type 2 (WS2) is an autosomal dominant disorder characterized by congenital sensorineural hearing loss, blue iris, and abnormal pigmentation of the hair and skin. WS2 is genetically heterogeneous, often resulting from pathogenic mutations in SOX10 gene. We identified a novel heterozygous frameshift mutation in SOX10 (NM_006941.4: c.22delT, p.S8Rfs*5) in a two-generation Chinese family with WS2 through whole exome sequencing. This mutation was present in both the proband, who exhibited typical features of hearing loss and pigmentation abnormalities, and his father, who showed only mild facial features. Quantitative real-time PCR revealed that the frameshift mutation leads to a reduced expression levels of SOX10 in the peripheral blood of mutation carriers. Our findings expand the spectrum of pathogenic mutations in SOX10 associated with WS2, providing valuable information for prenatal diagnosis and preimplantation screening, and underscore the role of genetic diagnosis in identifying atypical patients.<\/jats:p>","DOI":"10.1093\/hmg\/ddaf010","type":"journal-article","created":{"date-parts":[[2025,1,24]],"date-time":"2025-01-24T06:50:17Z","timestamp":1737701417000},"page":"668-672","source":"Crossref","is-referenced-by-count":1,"title":["A novel frameshift mutation of <i>SOX10<\/i> identified in Waardenburg syndrome type 2"],"prefix":"10.1093","volume":"34","author":[{"given":"Wenqing","family":"Han","sequence":"first","affiliation":[{"name":"Department of Facial Plastic and Reconstructive Surgery, ENT Institute, Eye & ENT Hospital, Fudan University , No. 83 Fenyang Road, Xuhui District, Shanghai 200031 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Run","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Facial Plastic and Reconstructive Surgery, ENT Institute, Eye & ENT Hospital, Fudan University , No. 83 Fenyang Road, Xuhui District, Shanghai 200031 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Facial Plastic and Reconstructive Surgery, ENT Institute, Eye & ENT Hospital, Fudan University , No. 83 Fenyang Road, Xuhui District, Shanghai 200031 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Facial Plastic and Reconstructive Surgery, ENT Institute, Eye & ENT Hospital, Fudan University , No. 83 Fenyang Road, Xuhui District, Shanghai 200031 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tianyu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Facial Plastic and Reconstructive Surgery, ENT Institute, Eye & ENT Hospital, Fudan University , No. 83 Fenyang Road, Xuhui District, Shanghai 200031 ,","place":["China"]},{"name":"NHC Key Laboratory of Hearing Medicine, Fudan University , No. 83 Fenyang Road, Xuhui District, Shanghai 200031 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-0265-3638","authenticated-orcid":false,"given":"Jing","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Facial Plastic and Reconstructive Surgery, ENT Institute, Eye & ENT Hospital, Fudan University , No. 83 Fenyang Road, Xuhui District, Shanghai 200031 ,","place":["China"]},{"name":"Institute of Medical Genetics & Genomics, Fudan University , No. 131 Dong'an Road, Xuhui District, Shanghai 200032 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,1,24]]},"reference":[{"key":"2025040712180285400_ref1","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1136\/jmg.34.8.656","article-title":"Waardenburg syndrome","volume":"34","author":"Read","year":"1997","journal-title":"J Med Genet"},{"key":"2025040712180285400_ref2","doi-asserted-by":"crossref","first-page":"10131","DOI":"10.3390\/cimb45120633","article-title":"Clinical significance of SOX10 expression in human pathology","volume":"45","author":"Bahmad","year":"2023","journal-title":"Curr Issues Mol Biol"},{"key":"2025040712180285400_ref3","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1038\/s41434-021-00240-2","article-title":"Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome","volume":"29","author":"Huang","year":"2021","journal-title":"Gene 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variants","volume":"14","author":"Bertani-Torres","year":"2024","journal-title":"Audiol Res"},{"key":"2025040712180285400_ref8","doi-asserted-by":"crossref","first-page":"112","DOI":"10.3389\/fgene.2020.589784","article-title":"Novel SOX10 mutations in Waardenburg syndrome: functional characterization and genotype-phenotype analysis","volume":"11","author":"Thongpradit","year":"2020","journal-title":"Front Genet"},{"key":"2025040712180285400_ref9","first-page":"45","article-title":"Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report","volume":"17","author":"Li","year":"2024","journal-title":"BMC Med Genet"},{"key":"2025040712180285400_ref10","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1002\/mgg3.2296","article-title":"A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II","volume":"12","author":"Ma","year":"2024","journal-title":"Mol Genet Genomic 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