De novo 15q13.3 microdeletion with cryptogenic West syndrome.
West syndrome is a well-recognized form of epilepsy, defined by a triad of infantile spasms, hypsarrhythmia and developmental arrest. West syndrome is heterogenous, caused by mutations of genes ARX, STXBP1, KCNT1 among others; 16p13.11 and 17q21.31 microdeletions are less frequent, usually associated with intellectual disability and facial dysmorphism. So-called "idiopathic" West syndrome is of better prognostic, without prior intellectual deficiency and usually responsive to anti-epileptic treatment. We report on a boy falling within the scope of idiopathic West syndrome, with no dysmorphic features and normal development before the beginning of West syndrome, with a good resolution after treatment, bearing a de novo 15q13.3 microdeletion. Six genes are located in the deleted region, including CHRNA7, which encodes a subunit of a nicotinic acetylcholine receptor, and is frequently associated with epilepsy. Exploration of the 15q13.3 region should be proposed in idiopathic West syndrome.
['Lacaze|Elodie|E|', 'Gruchy|Nicolas|N|', 'Penniello-Valette|Marie-José|MJ|', 'Plessis|Ghislaine|G|', 'Richard|Nicolas|N|', 'Decamp|Mathieu|M|', 'Mittre|Hervé|H|', 'Leporrier|Nathalie|N|', 'Andrieux|Joris|J|', 'Kottler|Marie-Laure|ML|', 'Gerard|Marion|M|']
D000328:Adult D002872:Chromosome Deletion D025063:Chromosome Disorders D002884:Chromosomes, Human, Pair 15 D055028:Comparative Genomic Hybridization D004569:Electroencephalography D019066:Facies D005260:Female D006801:Humans D007223:Infant D007231:Infant, Newborn D008607:Intellectual Disability D008297:Male D012640:Seizures D013036:Spasms, Infantile D064569:alpha7 Nicotinic Acetylcholine Receptor
15q13.3 microdeletion West syndrome epilepsy CHRNA7 array-CGH