{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T23:57:11Z","timestamp":1773100631948,"version":"3.50.1"},"reference-count":26,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,9,24]],"date-time":"2022-09-24T00:00:00Z","timestamp":1663977600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009564","name":"Health and Family Planning Commission of Sichuan Province","doi-asserted-by":"publisher","award":["20204Y0450"],"award-info":[{"award-number":["20204Y0450"]}],"id":[{"id":"10.13039\/501100009564","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81873671"],"award-info":[{"award-number":["81873671"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82070914"],"award-info":[{"award-number":["82070914"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is a rare autosomal dominant syndrome, which is caused by the heterozygous germline loss\u2010of\u2010function variants in <jats:italic>CTNNB1.<\/jats:italic><\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We evaluated the clinical and genetic findings of 24 previously undescribed Chinese patients affected by <jats:italic>CTNNB1<\/jats:italic>\u2010related disorders and explored the possible ethnicity\u2010related phenotypic variations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010one loss\u2010of\u2010function variants were identified within these 24 NEDSDV patients, including 14 novel <jats:italic>CTNNB1<\/jats:italic> variants and 7 recurrent ones. The prominent clinical manifestations in our cohort are developmental delay\/intellectual disability (100%), motor delay (100%), speech impairment (100%), dystonia (87.5%) and microcephaly (69.6%). The common facial dysmorphisms were consistent with previous reports, including wide nasal bridge (58.3%), bulbous nose (45.8%), long philtrum (45.8%) and thin upper lip (45.8%). In addition, 19 patients (79.2%) in our cohort had mild visual defects, while one affected individual (4.2%) had familial exudative vitreoretinopathy. Notably, we discovered that 20 patients (83.3%) exhibited various behavioral abnormalities, which is described in Chinese patients for the first time.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We provided the largest known Chinese cohort with pathogenic <jats:italic>CTNNB1<\/jats:italic> variants, which not only helps to expand the variant spectrum of <jats:italic>CTNNB1<\/jats:italic> gene, but further delineates the typical phenotype of this disorder in Chinese population.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2067","type":"journal-article","created":{"date-parts":[[2022,9,25]],"date-time":"2022-09-25T05:49:12Z","timestamp":1664084952000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Genetic and clinical characteristics of 24 mainland Chinese patients with <i>CTNNB1<\/i> loss\u2010of\u2010function variants"],"prefix":"10.1002","volume":"10","author":[{"given":"Dan","family":"Yan","sequence":"first","affiliation":[{"name":"Center of Clinical Genetics Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2938-0233","authenticated-orcid":false,"given":"Yu","family":"Sun","sequence":"additional","affiliation":[{"name":"Center of Clinical Genetics Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Na","family":"Xu","sequence":"additional","affiliation":[{"name":"Center of Clinical Genetics Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4472-0910","authenticated-orcid":false,"given":"Yongguo","family":"Yu","sequence":"additional","affiliation":[{"name":"Center of Clinical Genetics Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research  Shanghai China"},{"name":"Department of Pediatric Endocrinology and Genetic Metabolism Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongkun","family":"Zhan","sequence":"additional","affiliation":[{"name":"Center of Clinical Genetics Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"the Mainland Chinese League of 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