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

ABSTRACT:

Background

Ubiquitin-related rare diseases are generally characterized by developmental delays and mental retardation, but the exact incidence or prevalence is not yet fully understood. The clinical application of next-generation sequencing for pediatric seizures and developmental delay of unknown causes has become common in studies aimed at identification of a causal gene in patients with ubiquitin-related rare diseases that cannot be diagnosed using conventional fluorescence in situ hybridization or chromosome microarray tests. Our study aimed to investigate the effects of ubiquitin-proteasome system on ultra-rare neurodevelopmental diseases, through functional identification of candidate genes and variants.

Methods

In our present work, we carried out genome analysis of a

SUBMITTER: Shin U 

PROVIDER: S-EPMC10199504 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature