Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia.

Rachel L TaylorCarla Sanjuro SorianoSimon WilliamsDenisa DzulovaJane AshworthGeorgina HallTheodora GaleI Christopher LloydChris F InglehearnCarmel ToomesSofia DouzgouGraeme C Black

Published in: Orphanet journal of rare diseases (2022)

This is the first report of a biallelic disease-causing variation in CTNNB1. We conclude that this biallelic, transcriptional inactivating mutation of CTNNB1 causes a severe, syndromic form of microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia that results in serious visual loss in infancy.

Keyphrases

intellectual disability
autism spectrum disorder
early onset
gene expression
gestational age
drug induced
weight gain
body mass index
oxidative stress
heat stress