Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy.

ABSTRACT:

Objective

To identify the molecular genetic basis of a syndrome characterized by rapidly progressing cerebral atrophy, intractable seizures, and intellectual disability.

Methods

We performed exome sequencing in the proband and whole-genome single nucleotide polymorphism genotyping (copy number variant analysis) in the proband-parent trio. We used heterologous expression systems to study the functional consequences of identified mutations.

Results

The search for potentially deleterious recessive or de novo variants yielded compound heterozygous missense (c.1202G>A, p.Cys401Tyr) and frameshift deletion (c.2396delG, p.Ser799IlefsTer96) mutations in ADAM22, which encodes a postsynaptic receptor for LGI1. The deleterious effect of the mutations was observed in cell surface

SUBMITTER: Muona M 

PROVIDER: S-EPMC4817901 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature