Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.
William L MackenAnnie GodwinGabrielle WhewayKaren StalsLiliya NazlamovaSian EllardAhmed AlfaresTaghrid AlorainiLamia AlSubaieMajid AlfadhelSulaiman AlajajiHtoo A WaiJay SelfAndrew G L DouglasAlexander P KaoMatthew GuilleDiana BarallePublished in: Genome medicine (2021)
This adds to the growing body of evidence that COPI subunits are essential in brain development and human health and underlines the utility of exome and genome sequencing coupled with Xenopus tropicalis CRISPR/Cas modelling for the identification and characterisation of novel rare disease genes.
Keyphrases
- intellectual disability
- human health
- crispr cas
- copy number
- risk assessment
- genome wide
- bioinformatics analysis
- autism spectrum disorder
- genome editing
- climate change
- white matter
- dna methylation
- resting state
- early onset
- single cell
- case report
- cell free
- genome wide identification
- gene expression
- zika virus
- drug induced
- brain injury
- transcription factor