JOURNAL ARTICLE

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

Fadi F Hamdan, Amélie Piton, Julie Gauthier, Anne Lortie, François Dubeau, Sylvia Dobrzeniecka, Dan Spiegelman, Anne Noreau, Stéphanie Pellerin, Mélanie Côté, Edouard Henrion, Eric Fombonne, Laurent Mottron, Claude Marineau, Pierre Drapeau, Ronald G Lafrenière, Jean Claude Lacaille, Guy A Rouleau, Jacques L Michaud
Annals of Neurology 2009, 65 (6): 748-53
19557857
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.

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