Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss-of-function variants.

ABSTRACT:

Background

Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is a rare autosomal dominant syndrome, which is caused by the heterozygous germline loss-of-function variants in CTNNB1.

Methods

We evaluated the clinical and genetic findings of 24 previously undescribed Chinese patients affected by CTNNB1-related disorders and explored the possible ethnicity-related phenotypic variations.

Results

Twenty-one loss-of-function variants were identified within these 24 NEDSDV patients, including 14 novel CTNNB1 variants and 7 recurrent ones. The prominent clinical manifestations in our cohort are developmental delay/intellectual disability (100%), motor delay (100%), speech impairment (100%), dystonia (87.5%) and microcephaly (69.6%). The common faci

SUBMITTER: Yan D 

PROVIDER: S-EPMC9651608 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature