CTNNB1-related neurodevelopmental disorder mimics cerebral palsy: case report

• DOI: 10.3389/fped.2023.1201080
• Publication Date: 2023-06-21T09:26:10Z
• Authors: Jaewoong Lee; Jaeeun Yoo; Seungok Lee; Dae-Hyun Jang
• Keywords: Neurodevelopmental disorder; Genotype-phenotype distinction

While somatic gain-of-function mutations in the CTNNB1 gene cause diverse malignancies, germline loss-of-function neurodevelopmental disorders or familial exudative vitreoretinopathy. In particular, CTNNB1-related have various phenotypes, and a genotype-phenotype relationship has not been established. We report two patients with disorder whose clinical features were similar to those of cerebral palsy, hindering diagnosis.