Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.

ABSTRACT:

Background

The progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous disorders characterised by myoclonus, epilepsy, and neurological deterioration. This study aimed to identify the underlying gene(s) in childhood onset PME patients with unknown molecular genetic background.

Methods

Homozygosity mapping was applied on genome-wide single nucleotide polymorphism data of 18 Turkish patients. The potassium channel tetramerisation domain-containing 7 (KCTD7) gene, previously associated with PME in a single inbred family, was screened for mutations. The spatiotemporal expression of KCTD7 was assessed in cellular cultures and mouse brain tissue.

Results

Overlapping homozygosity in 8/18 patients defined a 1.5 Mb segment on 7q11.2

SUBMITTER: Kousi M 

PROVIDER: S-EPMC3773914 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature