Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID.

ABSTRACT: For a large number of individuals with intellectual disability (ID), the molecular basis of the disorder is still unknown. However, whole-exome sequencing (WES) is providing more and more insights into the genetic landscape of ID. In the present study, we performed trio-based WES in 311 patients with unsolved ID and additional clinical features, and identified homozygous CPLX1 variants in three patients with ID from two unrelated families. All displayed marked developmental delay and migrating myoclonic epilepsy, and one showed a cerebellar cleft in addition. The encoded protein, complexin 1, is crucially involved in neuronal synaptic regulation, and homozygous Cplx1 knockout mice have the earliest known onset of ataxia seen in a mouse model. Recently, a homozygous truncating variant in CP

SUBMITTER: Redler S 

PROVIDER: S-EPMC5520065 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature