HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.

ABSTRACT:

Background

The genetic aetiology of neurodevelopmental defects is extremely diverse, and the lack of distinctive phenotypic features means that genetic criteria are often required for accurate diagnostic classification. We aimed to identify the causative genetic lesions in two families in which eight affected individuals displayed variable learning disability, spasticity and abnormal gait.

Methods

Autosomal recessive inheritance was suggested by consanguinity in one family and by sibling recurrences with normal parents in the second. Autozygosity mapping and exome sequencing, respectively, were used to identify the causative gene.

Results

In both families, biallelic loss-of-function mutations in HACE1 were identified. HACE1 is an E3 ubiquitin ligase that regulates the

SUBMITTER: Hollstein R 

PROVIDER: S-EPMC4717446 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature