Fendri-Kriaa Nourhene, Louhichi Nacim, Mkaouar-Rebai Emna, Chabchoub Ghazi, Kammoun Fatma, Salem Ikhlass Hadj, Rebai Ahmed, Triki Chahnez, Fakhfakh Faiza
Human Molecular Genetics Laboratory, Faculty of Medecine of Sfax, Tunisia.
J Child Neurol. 2010 Nov;25(11):1362-8. doi: 10.1177/0883073810365739. Epub 2010 Apr 9.
Generalized epilepsy with febrile seizure plus (GEFS+) is an autosomal dominant disorder. In the literature, 5 responsible genes were identified and 2 novel susceptibility loci for GEFS+ at 2p24 and 8p23-p21 were reported, indicating the genetic heterogeneity of this disorder. The aim of this report is to identify the responsible loci in a large affected Tunisian family by performing a 10cM density genome-wide scan. The highest multipoint logarithm of odds (LOD) score (1.04) was found for D5S407 in the absence of recombination. Two other interesting regions were found around marker D19S210 (LOD=0.799) and D7S484 (LOD=0.61) markers. To fine map these loci, additional markers in 2 regions on 5q13.3 and 7p14.2 were analyzed and positive LOD scores for both loci were obtained. Sequencing of the Sodium channel subunit beta-1 gene (SCN1B) (19q13.1) showed the absence of any causal mutation. Our findings emphasized the genetic heterogeneity of febrile seizures.
伴有热性惊厥附加症的全身性癫痫（GEFS+）是一种常染色体显性疾病。在文献中，已鉴定出5个致病基因，并报道了位于2p24以及8p23 - p21的2个新的GEFS+易感基因座，这表明该疾病存在遗传异质性。本报告的目的是通过进行10cM密度的全基因组扫描，在一个大型突尼斯患病家族中确定致病基因座。在无重组的情况下，D5S407的最高多点对数优势（LOD）分数为1.04。在标记D19S210（LOD = 0.799）和D7S484（LOD = 0.61）标记周围还发现了另外两个有趣的区域。为了精细定位这些基因座，分析了5q13.3和7p14.2上两个区域的额外标记，并获得了两个基因座的阳性LOD分数。对钠通道亚基β-1基因（SCN1B）（19q13.1）进行测序，结果显示未发现任何致病突变。我们的研究结果强调了热性惊厥的遗传异质性。
