Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life. At least half of IS cases are idiopathic in origin, with others presumed to arise because of brain insult or malformation. Here, we identify a locus for IS by high-resolution mapping of 7q11.23-...

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Bibliographic Details
Published in:American journal of human genetics 2008-07, Vol.83 (1), p.106-111
Main Authors: Marshall, Christian R., Young, Edwin J., Pani, Ariel M., Freckmann, Mary-Louise, Lacassie, Yves, Howald, Cédric, Fitzgerald, Kristi K., Peippo, Maarit, Morris, Colleen A., Shane, Kate, Priolo, Manuela, Morimoto, Masafumi, Kondo, Ikuko, Manguoglu, Esra, Berker-Karauzum, Sibel, Edery, Patrick, Hobart, Holly H., Mervis, Carolyn B., Zuffardi, Orsetta, Reymond, Alexandre, Kaplan, Paige, Tassabehji, May, Gregg, Ronald G., Scherer, Stephen W., Osborne, Lucy R.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Carrier Proteins
Chromosome Breakage
Chromosomes
Chromosomes, Human, Pair 17
Epilepsy
Female
Fundamental and applied biological sciences. Psychology
Gene Deletion
Gene loci
General aspects. Genetic counseling
Genes
Genetic Markers
Genetics of eukaryotes. Biological and molecular evolution
Humans
In Situ Hybridization, Fluorescence
Infant
Kinases
Male
Medical genetics
Medical sciences
Microsatellite Repeats
Molecular and cellular biology
Oligonucleotide Array Sequence Analysis
Physical Chromosome Mapping
Polymorphism, Single Nucleotide
Protein folding
Proteins - genetics
Spasms, Infantile - diagnosis
Spasms, Infantile - genetics
Spasms, Infantile - physiopathology
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Summary:Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life. At least half of IS cases are idiopathic in origin, with others presumed to arise because of brain insult or malformation. Here, we identify a locus for IS by high-resolution mapping of 7q11.23-q21.1 interstitial deletions in patients. The breakpoints delineate a 500 kb interval within the MAGI2 gene (1.4 Mb in size) that is hemizygously disrupted in 15 of 16 participants with IS or childhood epilepsy, but remains intact in 11 of 12 participants with no seizure history. MAGI2 encodes the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 that interacts with Stargazin, a protein also associated with epilepsy in the stargazer mouse.
ISSN:0002-9297
1537-6605
DOI:10.1016/j.ajhg.2008.06.001