New Syndrome Of Mental Retardation And Epilepsy Identified

Evan Eichler and colleagues used a high-resolution method to scan the genomes of 757 individuals with mental retardation and other anomalies, in search of chromosomal deletions and duplications. They identified an identical 1.5 million base pair deletion on chromosome 15, spanning 6 genes, in 2 unrelated individuals. The same microdeletion was later found in an additional seven individuals. One of the six deleted genes is CHRNA7, which encodes a synaptic ion channel protein that mediates neuronal signaling, and has been suggested previously to be a susceptibility factor for certain forms of epilepsy.

The authors suggest that the increasing use of high-resolution methods to identify 'submicroscopic' deletions will lead to the identification of additional syndromes with a common genetic origin.

Author contact:

Evan Eichler (University of Washington School of Medicine, Seattle, WA, USA)
E-mail: eee@gs.washington.edu

Abstract available online.

(C) Nature Genetics press release.

Message posted by: Trevor M. D'Souza