家族性婴儿严重肌阵挛性癫痫中的镶嵌型SCN1A突变
Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy.
作者信息
Marini Carla, Mei Davide, Helen Cross J, Guerrini Renzo
机构信息
Epilepsy, Neurophysiology and Neurogenetics Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.
出版信息
Epilepsia. 2006 Oct;47(10):1737-40. doi: 10.1111/j.1528-1167.2006.00675.x.
PURPOSE
Mutations of the alpha1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). Mutations of SCN1A have been found in 40 to 100% of SMEI patients and are de novo in the majority of individuals.
METHODS
We studied two sisters with SMEI and their father with febrile seizures.
RESULTS
SCN1A screening revealed a splice-site mutation in both sisters. The mutation was inherited from their father in whom, however, a mosaicism was found, with 37% of ectodermal derivative cells carrying the mutation.
CONCLUSIONS
In this family, a SCN1A mosaic mutation correlated with the milder phenotype, whereas the full heterozygous mutation caused SMEI. The possibility of mosaic mutations must, therefore, also be taken into account for genetic counseling and determining the recurrence risk in patients with SMEI.
目的
α1亚基钠通道基因（SCN1A）突变可导致婴儿严重肌阵挛性癫痫（SMEI）。在40%至100%的SMEI患者中发现了SCN1A突变，且大多数个体的突变是新发的。
方法
我们研究了两名患有SMEI的姐妹及其患有热性惊厥的父亲。
结果
SCN1A筛查发现两名姐妹均存在剪接位点突变。该突变遗传自她们的父亲，然而，在其父亲中发现了嵌合体现象，37%的外胚层衍生细胞携带该突变。
结论
在这个家族中，SCN1A嵌合突变与较轻的表型相关，而完全杂合突变则导致SMEI。因此，在进行遗传咨询和确定SMEI患者的复发风险时，也必须考虑嵌合突变的可能性。
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