Variants in BRWD3 associated with X-linked partial epilepsy without intellectual disability.

ABSTRACT:

Aims

Etiology of the majority patients with idiopathic partial epilepsy (IPE) remains elusive. We thus screened the potential disease-associated variants in the patients with IPE.

Methods

Trios-based whole exome sequencing was performed in a cohort of 320 patients with IPE. Frequency and molecular effects of variants were predicted.

Results

Three novel BRWD3 variants were identified in five unrelated cases with IPE, which were four male cases and one female case. The variants included two recurrent missense variants (c.836C>T/p.Thr279Ile and c.4234A>C/p.Ile1412Leu) and one intronic variant close to splice site (c.2475 + 6A>G). The two missense variants were located in WD40 repeat domain and bromodomain, respectively. They were predicted to be damaging by silico tools

SUBMITTER: Tian MQ 

PROVIDER: S-EPMC9873514 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature