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. 2022 Jan;188(1):130-137.
doi: 10.1002/ajmg.a.62504. Epub 2021 Sep 24.

CTNNB1-related neurodevelopmental disorder in a Chinese population: A case series

Stephanie Ho  1 , Mandy Ho-Yin Tsang  2 , Jasmine Lee-Fong Fung  2 , Haibo Huang  3 , Chun-Bong Chow  3 , Shirley Sze-Wing Cheng  1 , Ho-Ming Luk  1 , Brian Hon-Yin Chung  2 , Ivan Fai-Man Lo  1
Affiliations

CTNNB1-related neurodevelopmental disorder in a Chinese population: A case series

Stephanie Ho et al. Am J Med Genet A. 2022 Jan.

Abstract

CTNNB1-related disorder is an autosomal dominant neurodevelopmental disorder characterized by a variable degree of cognitive impairment, microcephaly, truncal hypotonia, peripheral spasticity, visual defects, and dysmorphic features. In this case series, we report the clinical and molecular findings of nine Chinese patients affected by CTNNB1-related disorders. The facial features of these affected individuals appear to resemble what had been previously described, with thin upper lip (77.8%) and hypoplastic alae nasi (77.8%) being the most common. Frequently reported clinical characteristics in our cohort include developmental delay (100%), peripheral spasticity (88.9%), truncal hypotonia (66.7%), microcephaly (66.7%), and dystonia (44.4%). While various eye manifestations were reported, two affected individuals (22.2%) in our cohort had familial exudative vitreoretinopathy. One of the affected individuals had craniosynostosis, a feature not reported in the literature before. To our knowledge, this is the first reported Chinese case series of CTNNB1-related neurodevelopmental disorders. Further studies are required to look into whether ethnic differences play a role in phenotypic variations.

Keywords: CTNNB1; Chinese; FEVR; NEDSDV.

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