Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures
Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures
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DOI：
10.1212/wnl.0b013e3181bc0158
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发表时间：
2009-10-13
期刊：
影响因子：
9.9
通讯作者：
Hirose, S.
中科院分区：
文献类型：
--
作者：
Kurahashi, H.;Wang, J. -W.;Hirose, S.
目的：已在良性家族性新生儿癫痫（BFNS）患者中鉴定出编码钾电压门控通道亚单位KCNQ 2和KCNQ 3的基因突变。本研究旨在确定BFNS患者KCNQ 2或KCNQ 3微染色体缺失的频率。方法：研究对象为22例BFNS患者。通过多重连接依赖探针扩增寻找微缺失，然后通过荧光原位杂交证实，并通过基于阵列的比较基因组hybridization.Results的特点：杂合性多外显子缺失的KCNQ 2确定在4的22例BFNS。在4例病例中的2例中检测到相邻基因的伴随缺失，包括烟碱胆碱能受体α 4（CHRNA 4）。KCNQ 2和CHRNA 4基因同时缺失的患者临床表现为典型的BFNS，无一例表现为常染色体显性夜间额叶癫痫，其中部分患者为CHRNA 4基因突变所致。结论：KCNQ 2和CHRNA 4基因同时缺失的患者临床表现与仅KCNQ 2基因缺失的患者无明显区别。神经病学（R）2009; 73：1214-1217
Objective: Mutations of the genes encoding subunits of potassium voltage-gated channel, KCNQ2 and KCNQ3, have been identified in patients with benign familial neonatal seizures (BFNS). This study set out to determine the frequency of microchromosomal deletions of KCNQ2 or KCNQ3 associated with BFNS.Methods: The study subjects were patients with BFNS (n = 22). Microdeletions were sought by multiplex ligation-dependent probe amplification and then confirmed by fluorescence in situ hybridization and characterized by array-based comparative genomic hybridization.Results: Heterozygous multiple exonic deletions of KCNQ2 were identified in 4 of 22 patients with BFNS. Concomitant deletions of adjacent genes, including nicotinic cholinergic receptor alpha 4 (CHRNA4), were detected in 2 of the 4 cases. The clinical courses of patients with deletions of both KCNQ2 and CHRNA4 were those of typical BFNS, and none presented with the phenotype of autosomal dominant nocturnal frontal lobe epilepsy, some of which are caused by mutations of CHRNA4.Conclusions: Our findings indicate that the clinical courses of patients with deletions of both KCNQ2 and CHRNA4 are indistinguishable from those of patients with deletions of KCNQ2 only. Neurology (R) 2009; 73: 1214-1217