title: [Analysis of the GABRG2 gene mutation in a Chinese family with generalized epilepsy with febrile seizures plus].
abstract: OBJECTIVE
  To identify the mutation of the GABA(A)-receptor gamma 2 subunit gene (GABRG2) in a Chinese family with generalized epilepsy with febrile seizures plus (GEFS+ ) and analyze the genotype-phenotype correlations and its inheritance.
  
  
  METHODS
  Genomic DNA was extracted from peripheral blood lymphocytes of the proband and other available members in the GEFS+ family. The coding regions and flanking intronic regions of the GABRG2 gene were screened for mutations using polymerase chain reaction (PCR) and direct DNA sequencing.
  
  
  RESULTS
  There were 7 affected members in the three-generation family, in which one with febrile seizures (FS) and six with febrile seizures plus (FS+ ). This family was consistent with the diagnostic criteria of GEFS+ . The nonsense mutation c.1287G to A (p.W390X) in the GABRG2 gene was initially identified in the proband. Seven affected members (6 FS+ and 1 FS) and one unaffected member carried the mutation. The nonsense mutation c.1287G to A/p.W390X in the GABRG2 gene was co-segregated with the GEFS+ family. The penetrance rate was about 87.5%(7/8).
  
  
  CONCLUSIONS
  This GEFS+ family was consistent with autosomal dominant inheritance with incomplete penetrance. GABRG2 mutation is also a disease-causing mutation in Chinese GEFS+ patients. The p.W390X mutation has not been reported previously.
authors.affiliation: Department of Pediatrics, the First Hospital, Peking University, Beijing, 100034 P. R. China.
authors.forename: Huihui
authors.initials: H
authors.lastname: Sun
authors.forename: Yuehua
authors.initials: Y
authors.lastname: Zhang
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Liu
authors.forename: Xiuwei
authors.initials: X
authors.lastname: Ma
authors.forename: Husheng
authors.initials: H
authors.lastname: Wu
authors.forename: Keming
authors.initials: K
authors.lastname: Xu
authors.forename: Yu
authors.initials: Y
authors.lastname: Qi
authors.forename: Xiru
authors.initials: X
authors.lastname: Wu
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D017124:Conserved Sequence; D004252:DNA Mutational Analysis; D004829:Epilepsy, Generalized / Q000150:complications* / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D011963:Receptors, GABA-A / Q000737:chemistry / Q000235:genetics*; D003294:Seizures, Febrile / Q000150:complications* / Q000235:genetics*
chemical_list: C546279:GABRG2 protein, human; D011963:Receptors, GABA-A