Journal
ANNALS OF NEUROLOGY
Volume 65, Issue 6, Pages 748-753Publisher
WILEY
DOI: 10.1002/ana.21625
Keywords
-
Categories
Funding
- Canadian Institute of Health Research [GMH-79079]
- Fonds de la Recherche en Sante
- Genome Canada and Genome Quebec and Universite de Montreal for the Synapse to Diseases
- Canadian Institute of Health Research (Institute of Genetics)
Ask authors/readers for more resources
We sequenced genes coding for components of the SNARE complex (STX1A, VAMP2, SNAP25) and their regulatory proteins (STXBP1/Munc18-1, SYT1), which are essential for neurotransmission, in 95 patients with idiopathic mental retardation. We identified de novo mutations in STXBP1 (nonsense, p.R388X; splicing, c.169+1G>A) in two patients with severe mental retardation and nonsyndromic epilepsy. Reverse transcriptase polymerase chain reaction and sequencing showed that the splicing mutation creates a stop codon downstream of exon-3. No de novo or deleterious Mutations in STXBP1 were found in 190 control subjects, or in 142 autistic patients. These results suggest that STXBP1 disruption is associated with autosomal dominant mental retardation and nonsyndromic epilepsy.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available