For a paper appearing in Genetics in Medicine, investigators at the University of Adelaide and other international centers explore clinical heterogeneity across neurodevelopmental conditions linked to pathogenic or likely pathogenic germline variants in CTNNB1. Using detailed phenotypic data and genetic tests for 52 individuals with loss-of-function CTNNB1 variants, along with published data for more than 350 more CTNNB1-related neurodevelopmental conditions, the team saw similar features in patients with CTNNB1-related conditions such as "neurodevelopmental disorder with spastic diplegia and visual defects" (NEDSDV) or monogenic cerebral palsy (CP). "A diagnosis of CP was not significantly associated with any set of traits that defined a specific phenotypic subgroup, indicating that CP is not additional to NEDSDV," the authors report, adding that at least two of the 392 CTNNB1 mutations considered "were dominant negative regulators of WNT signaling."
Shared Features Found Across CTNNB1-Related Neurodevelopmental Disorders
Sep 13, 2022