Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.

ABSTRACT:

Background

Epileptic encephalopathies are a group of childhood epilepsies that display high phenotypic and genetic heterogeneity. The recent, extensive use of next-generation sequencing has identified a large number of genes in epileptic encephalopathies, including UBA5 in which biallelic mutations were first described as pathogenic in 2016 (Colin E et al., Am J Hum Genet 99(3):695-703, 2016. Muona M et al., Am J Hum Genet 99(3):683-694, 2016). UBA5 encodes an activating enzyme for a post-translational modification mechanism known as ufmylation, and is the first gene from the ufmylation pathway that is linked to disease.

Case presentation

We sequenced the genomes of two sisters with early-onset epileptic encephalopathy along with their unaffected parents in an attempt to fin

SUBMITTER: Arnadottir GA 

PROVIDER: S-EPMC5623963 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature