CTNNB1 Neurodevelopmental Disorder

CTNNB1 Neurodevelopmental Disorder is a neurodevelopmental disorder with developmental delay or intellectual disability, severe speech impairment, microcephaly, truncal hypotonia, progressive peripheral spasticity or dystonia and frequent visual abnormalities including strabismus, refractive error and retinal vascular disease.
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Genetics

Usually caused by a de novo heterozygous loss-of-function variant in CTNNB1, resulting in autosomal dominant haploinsufficiency. This germline mechanism is distinct from activating somatic CTNNB1 variants found in cancer.

Molecular Mechanism

Beta-catenin is both a transcriptional co-activator in canonical Wnt signaling and a structural component of cadherin adhesion complexes. Reduced dosage disrupts neuronal differentiation and connectivity, motor-system development and Wnt-dependent retinal vascular development.

Therapy

Treatment is supportive and includes management of spasticity and dystonia, physiotherapy, augmentative communication, feeding, orthopedic and ophthalmologic care. Gene-replacement and other dosage-restoration strategies remain experimental.

CCP Activity

CCP has completed the defined regulatory-support package for the CTNNB1 therapeutic programme led by Ctnnb1 foundation. This activity is recorded as completed.

Mouse Models Mouse Models & Gene Cards

Mouse ModelsGene Cards
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