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

Am J Hum Genet. 2008 Jul;83(1):106-11. doi: 10.1016/j.ajhg.2008.06.001. Epub 2008 Jun 19.

Abstract

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carrier Proteins
  • Chromosome Breakage
  • Chromosomes, Human, Pair 17*
  • Female
  • Gene Deletion*
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Male
  • Microsatellite Repeats
  • Oligonucleotide Array Sequence Analysis
  • Physical Chromosome Mapping
  • Polymorphism, Single Nucleotide
  • Proteins / genetics*
  • Spasms, Infantile / diagnosis
  • Spasms, Infantile / genetics*
  • Spasms, Infantile / physiopathology

Substances

  • Carrier Proteins
  • Genetic Markers
  • Proteins
  • MAGI2 protein, human