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目的 探讨Cardio-facio-cutaneous综合征(CFC)的临床表型及基因变异特征.方法 提取2例CFC患儿及其父母外周血DNA,采用靶向基因高通量测序技术检测变异基因,并运用Sanger测序进行验证.结果 2例患儿均为汉族女性,分别为13个月和7岁半,有内眦赘皮、鼻梁塌平、头发稀疏等相似的颅面部特征,均伴有生长发育迟缓及癫痫发作史.1例心电图有T波变化,P-R间期正常高限;另1例心电图正常.基因检测显示,2例患儿在MAP2K1基因3号外显子上各有一处杂合的错义变异,分别为c.383G>T,p.Gly128Val和c.389A>G,p.Tyr130Cys,且均为新生突变(de novo),均系文献报道过的CFC变异位点.结论 2例为国内首次报道CFC病例,且均为MAP2K1基因突变型.因既往报道CFC患儿大多合并心脏病变,2例患儿均继续随访心脏功能.“,”Objective To explore the clinical phenotype and gene variation features of Cardio-facio-cutaneous syndrome (CFC). Method DNA were extracted from peripheral blood in 2 children with CFC and their parents, and the mutation gene were detected by high throughput sequencing of target gene and verified by Sanger sequencing. Results Two patients were Han nationality females and aged 13 months and 7.5years respectively. Both of them showed craniofacial features of epicanthus, flat nose and scant hair, and had history of growth retardation and epileptic seizure. The electrocardiogram in one case showed that there was a change in T wave and P-R interval reached the normal high limit. The electrocardiogram in the other case was normal. Genetic detection revealed that there were two heterozygous missense mutation in the third exon of MAP2K1, c.383G>T, p.Gly128Val and c.389A>G, p.Tyr130Cys, which were new mutations (de novo) and CFC mutation sites reported in the literature. Conclusion The two cases of CFC were first reported in China and both had MAP2K1 mutations. The children with CFC were reported to be mostly complicated with heart disease, thus these 2 patients should be followed up for cardiac function.