Analysis of the GABRG2 gene mutation in a Chinese family with generalized epilepsy with febrile seizures plus.
- Author:
Huihui SUN
1
;
Yuehua ZHANG
;
Xiaoyan LIU
;
Xiuwei MA
;
Husheng WU
;
Keming XU
;
Yu QI
;
Xiru WU
Author Information
- Publication Type:Journal Article
- MeSH: Amino Acid Sequence; Animals; Asian Continental Ancestry Group; genetics; Base Sequence; Child; Conserved Sequence; DNA Mutational Analysis; Epilepsy, Generalized; complications; genetics; Exons; genetics; Genotype; Humans; Male; Molecular Sequence Data; Pedigree; Phenotype; Receptors, GABA-A; chemistry; genetics; Seizures, Febrile; complications; genetics
- From: Chinese Journal of Medical Genetics 2008;25(6):611-615
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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.
METHODSGenomic 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.
RESULTSThere 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).
CONCLUSIONThis 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.