中文摘要：

目的对儿童良性癫痫伴中央颞区棘波放电（BECTS）患者进行GRIN2A基因突变筛查,分析其在BECTS患者中的致病性和遗传特征。方法收集2012年6月~2014年12月期间我院诊断的BECTS患者,采用PCR扩增和一代测序方法筛查GRIN2A基因突变。结果在收集的53例BECTS患者中,发现4例存在GRIN2A杂合突变,其中1例患者同时具有2个GRIN2A基因突变位点。突变包括4个错义突变（c.2627T〉C,p.I876T;c.1341T〉A,p.N447K;c.4322C〉A,p.T1441N;c.1271C〉T,p.P424L）和1个剪切位点突变（c.415-38C〉T）,且均为未见报道的新突变位点。除c.1271C〉T为新生突变、c.1341T〉A未能验证突变来源外,其余3个突变均为遗传性突变。突变率为7.5%,外显率为75%。经保守性分析,发生错义突变的氨基酸变化位点均为高度保守。结论GRIN2A可能是BECTS的致病基因。GRIN2A突变存在不完全外显,临床进行遗传咨询时应引起高度重视。

英文摘要：

Objective To screen GRIN2 A mutations in Chinese Han patients with benign childhood epilepsy with centrotemporal spikes（ BECTS） and analyze the features of GRIN2 A mutations. Methods Patients with BECTS were recruited. GRIN2 A mutations were screened by PCR and direct sequencing. Results Fifty-three patients with BECTS were recruited. Five new heterozygous mutations in GRIN2 A were identified in 4 patients with BECTS,including 4 missense mutations（ c. 2627 T C,p. I876T; c. 1341 T A,p. N447K; c. 4322 C A,p. T1441N; c. 1271 C T,p. P424L） and 1 splicing site mutation（ c. 415-38 C T）. Among the patients with GRIN2 A mutations,one of the patients had two mutations（ c. 4322 C A and c. 1271 C T）. Except for c. 1271 C T was a de novo mutation and c. 1341 T A was not available for inherited analysis,other mutations were inherited. The rate of incomplete penetrance was 75%. Conclusion GRIN2 A is a causative gene for BECTS. Screening of GRIN2 A mutation is highly recommended in the patients with BECTS. Incomplete penetrance should be paid attention in the area of genetic counselling.