{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T12:38:38Z","timestamp":1769603918548,"version":"3.49.0"},"reference-count":14,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,12,11]],"date-time":"2020-12-11T00:00:00Z","timestamp":1607644800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p><jats:italic>CTNNB1<\/jats:italic> gene mutation was firstly reported related to intellectual disability in 2012, to explore the clinical phenotype and genotype characteristics of <jats:italic>CTNNB1<\/jats:italic> mutation, we collected and analyzed the clinical data of a child with a neurodevelopmental disorder caused by a mutation of <jats:italic>CTNNB1<\/jats:italic>. The child had dysmorphic features, microcephaly, hypotonia, polydactyly, retinal detachment, and neurodevelopmental disorder, with a <jats:italic>de novo<\/jats:italic> mutation of <jats:italic>CTNNB1<\/jats:italic> c.1603C &amp;gt; T, p.R535X. The patient was diagnosed as Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) and was given rehabilitation training. After 4 months of rehabilitation training, she improved in gross motor function. We found that <jats:italic>CTNNB1<\/jats:italic> mutation can cause neurodevelopmental disorder, which could be accompanied by retinal detachment and polydactyly. The retinal detachment had only been reported in two Asian patients, and we firstly reported the phenotype of polydactyly in the <jats:italic>CTNNB1<\/jats:italic> mutation. This report not only helps to expand the clinical phenotype spectrum of the <jats:italic>CTNNB1<\/jats:italic> gene mutation but also prompts a new insight into genetic diagnosis in patients with a neurodevelopmental disorder, retinal detachment, and polydactyly.<\/jats:p>","DOI":"10.3389\/fped.2020.575673","type":"journal-article","created":{"date-parts":[[2020,12,11]],"date-time":"2020-12-11T05:34:52Z","timestamp":1607664892000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":15,"title":["Case Report: A de novo CTNNB1 Nonsense Mutation Associated With Neurodevelopmental Disorder, Retinal Detachment, Polydactyly"],"prefix":"10.3389","volume":"8","author":[{"given":"Zhongling","family":"KE","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanhui","family":"CHEN","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2020,12,11]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"2738","DOI":"10.1093\/hmg\/ddw131","article-title":"Deletion of CTNNB1 in inhibitory circuitry contributes to autism-associated behavioral defects","volume":"25","author":"Dong","year":"2016","journal-title":"Hum Mol Genet."},{"key":"B2","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1016\/j.ejmg.2016.11.008","article-title":"Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals","volume":"60","author":"Kharbanda","year":"2017","journal-title":"Eur J Med Genet."},{"key":"B3","unstructured":"PaulJ\n          12037582CATENIN. 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