Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality.

ABSTRACT:

Background

The HERC2 gene encodes a 527 kDa E3 ubiquitin protein ligase that has key roles in cell cycle regulation, spindle formation during mitosis, mitochondrial functions and DNA damage responses. It has essential roles during embryonic development, particularly for neuronal and muscular functions. To date, missense mutations in HERC2 have been associated with an autosomal recessive neurodevelopmental disorder with some phenotypical similarities to Angelman syndrome, and a homozygous deletion spanning HERC2 and OCA2 causing a more severe neurodevelopmental phenotype.

Methods and results

We ascertained a consanguineous family with a presumed autosomal recessive severe neurodevelopmental disorder that leads to paediatric lethality. In affected i

SUBMITTER: Elpidorou M 

PROVIDER: S-EPMC8086253 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature