Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus
Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus
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DOI：
10.1111/j.1468-1331.2009.02570.x
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发表时间：
2009-06-01
影响因子：
5.1
通讯作者：
Triki, C.
中科院分区：
文献类型：
--
作者：
Fendri-Kriaa, N.;Kammoun, F.;Triki, C.
热性发作可与异质性癫痫表型重新组合成一种称为全身性癫痫伴热性惊厥(GEFS+)的综合征有关。本报告的目的是在两个患病的突尼斯家庭中寻找与GEFS+有关的基因。对已知的FS和GEFS+基因座进行微卫星标记分析。根据统计分析的结果，GEFS+3座位上的GABRG2和GEFS+2座位上的SCN1A是两个潜在的候选基因，并进行了直接测序。突变分析和统计学检验表明，GABRG2基因与内含子8中的rs211014存在疾病关联(X(2)=5.25，P=0.021)。对两个受试家系进行了SCN1A基因的测序分析，发现只有一个家系存在已知突变(C.1811G>；A)和可能与疾病相关的单倍型。我们的结果支持SCN1A是两个被研究的突尼斯家庭之一的GEFS+的致病基因，并提示GABRG2基因内含子SNP在两个家庭中都是正相关。
Febrile Seizure can be associated with heterogeneous epilepsy phenotypes regrouped in a syndrome called generalized epilepsy with febrile seizures plus (GEFS+). The aim of this report is to search for the gene responsible for GEFS+ in two affected Tunisian families.Microsatellite marker analysis was performed on the known FS and GEFS+ loci. According to the results obtained by statistical analyses, GABRG2 on GEFS+3 locus and SCN1A on GEFS+2 locus were considered as two of the potential candidate genes and were tested for mutations by direct sequencing.The mutation analysis and statistical test of the GABRG2 gene revealed a disease association with rs211014 in intron 8 (chi(2) = 5.25, P = 0.021). A sequencing analysis of the SCN1A gene was performed for the two tested families and showed a known mutation (c.1811G > A) and a putative disease-associated haplotype in only one family. Our results support that SCN1A is the responsible gene for GEFS+ in one of the two studied Tunisian families and suggest a positive association of an intronic SNP in the GABRG2 gene in both families.