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This study aimed to investigate the clinical features of WS in detail and determine the genetic causes of patients with clinically suspected WS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A total of 24 patients from 21 Han\u2010Taiwanese families were enrolled and underwent comprehensive physical and audiological examinations. We applied targeted next\u2010generation sequencing (NGS) to investigate the potential causative variants in these patients and further validated the candidate variants through Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified 19 causative variants of WS in our cohort. Of these variants, nine were novel and discovered in <jats:italic>PAX3<\/jats:italic>, <jats:italic>SOX10<\/jats:italic>, <jats:italic>EDNRB<\/jats:italic>, and <jats:italic>MITF<\/jats:italic> genes, including missense, nonsense, deletion, and splice site variants. Several patients presented with skeletal deformities, hypotonia, megacolon, and neurological disorders that were rarely seen in WS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study revealed highly phenotypic variability in Taiwanese WS patients and demonstrated that targeted NGS allowed us to clarify the genetic diagnosis and extend the genetic variant spectrum of WS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2082","type":"journal-article","created":{"date-parts":[[2022,11,4]],"date-time":"2022-11-04T12:42:53Z","timestamp":1667565773000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Identification of nine novel variants across <scp><i>PAX3<\/i><\/scp>, <scp><i>SOX10<\/i><\/scp>, <scp><i>EDNRB<\/i><\/scp>, and <scp><i>MITF<\/i><\/scp> genes in Waardenburg syndrome with next\u2010generation 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