title: Failure to find causal mutations in the GABA(A)-receptor gamma2 subunit (GABRG2) gene in Japanese febrile seizure patients.
abstract: Recently, mutations in the GABA(A)-receptor gamma2 subunit (GABRG2) gene were identified in two families with generalized epilepsy with febrile seizures plus (GEFS+) and two families with childhood absence epilepsy (CAE) and febrile seizures (FS). We tested the hypothesis that genetic variations in the GABRG2 gene confer susceptibility to FS in the Japanese population. We performed a systematic search for mutations in 94 unrelated Japanese patients with FS and detected six variants (-158C>T, 315C>T, 588T>C, IVS5-55C>T, IVS7+20G>A, and IVS7-141T>A). No non-synonymous mutation was detected. We genotyped three exonic polymorphisms and performed a case control study and a transmission disequilibrium test using 55 independent complete trios with FS and 106 control subjects. None of these polymorphic alleles were significantly associated with FS. Our results indicate that genomic variations of GABRG2 are not likely to be substantially involved in the etiology of FS in the Japanese population.
authors.affiliation: Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki-ken, 305-8575, Japan.
authors.forename: Junko
authors.initials: J
authors.lastname: Nakayama
authors.forename: Kenzo
authors.initials: K
authors.lastname: Hamano
authors.forename: Emiko
authors.initials: E
authors.lastname: Noguchi
authors.forename: Yasue
authors.initials: Y
authors.lastname: Horiuchi
authors.forename: Nobuaki
authors.initials: N
authors.lastname: Iwasaki
authors.forename: Masayasu
authors.initials: M
authors.lastname: Ohta
authors.forename: Satoko
authors.initials: S
authors.lastname: Nakahara
authors.forename: Takayuki
authors.initials: T
authors.lastname: Naoi
authors.forename: Akira
authors.initials: A
authors.lastname: Matsui
authors.forename: Tadao
authors.initials: T
authors.lastname: Arinami
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D007564:Japan; D015810:Linkage Disequilibrium; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic / Q000235:genetics; D021122:Protein Subunits; D011897:Random Allocation; D011963:Receptors, GABA-A / Q000235:genetics*; D003294:Seizures, Febrile / Q000235:genetics*; D013912:Threonine / Q000235:genetics
chemical_list: D021122:Protein Subunits; D011963:Receptors, GABA-A; D013912:Threonine; D003545:Cysteine