婴儿痉挛症与7号染色体q11.23-q21.11区域MAGI2基因的缺失有关。
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
作者信息
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
机构信息
Program in Genetics & Genomic Biology and The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada.
出版信息
Am J Hum Genet. 2008 Jul;83(1):106-11. doi: 10.1016/j.ajhg.2008.06.001. Epub 2008 Jun 19.
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.
婴儿痉挛症（IS）是一岁以内婴儿最严重且常见的癫痫形式。至少半数的婴儿痉挛症病例病因不明，其他病例则推测是由脑损伤或畸形所致。在此，我们通过对患者7q11.23 - q21.1间质性缺失进行高分辨率定位，确定了一个与婴儿痉挛症相关的基因座。断点划定了MAGI2基因（大小为1.4 Mb）内一个500 kb的区间，在16名患有婴儿痉挛症或儿童癫痫的参与者中，有15名该区间半合子中断，但在12名无癫痫发作史的参与者中，有11名该区间保持完整。MAGI2编码突触支架蛋白膜相关鸟苷酸激酶反向2，它与Stargazin相互作用，Stargazin是一种在凝视小鼠中也与癫痫相关的蛋白质。
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