A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish.

Unbeom ShinYeonsong ChoiHwa Soo KoKyungjae MyungSemin LeeChong Kun CheonYoonsung Lee

Published in: Human genomics (2023)

A de novo heterozygous variant in the UBE2H c.449C>T (p.Thr150Met) has been identified in a pediatric patient with global developmental delay and UBE2H is essential for normal neurogenesis in the brain.

Keyphrases

resting state
early onset
cerebral ischemia
white matter
functional connectivity
case report
tyrosine kinase
brain injury
multiple sclerosis