The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder.

ABSTRACT:

Purpose

Loss-of-function mutations of CTNNB1 have been established as the cause of neurodevelopmental disorder with spastic diplegia and visual defects. Although most patients share key phenotypes such as global developmental delay and intellectual disability, patients with CTNNB1-related neurodevelopmental disorder show a broad spectrum of clinical features.

Methods

We enrolled 13 Korean patients with CTNNB1-related neurodevelopmental disorder who visited Seoul National University Children's Hospital (5 female and 8 male patients with ages ranging from 4 to 22 years). They were all genetically confirmed as having pathogenic loss-of-function variants in CTNNB1 using trio or singleton whole exome sequencing. Variants called from singleton analyses

SUBMITTER: Lee S 

PROVIDER: S-EPMC9353113 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature