Cardio-facio-cutaneous综合征2例报告并文献复习
发布时间：2018-08-30 17:31
【摘要】：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.383GT,p.Gly128Val和c.389AG,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。
[Abstract]:Objective to investigate the clinical phenotype and gene variation of (CFC) in Cardio-facio-cutaneous syndrome. Methods DNA, from peripheral blood of 2 CFC children and their parents were detected by high throughput sequencing of target genes and verified by Sanger sequencing. Results the two children were all Han women, 13 months old and 7 and a half years old, respectively, with similar craniofacial features, such as epicanthus, flat nose, thin hair, etc. All cases were accompanied by growth retardation and epileptic seizure history. 1 case had T wave change and P-R interval was normal, and 1 case had normal electrocardiogram. Gene analysis showed that there was a heterozygous missense variation on exon 3 of MAP2K1 gene in two children, namely c. 383 GTP. Gly128Val and c. 389 AGP. Tyr130 Cys. all of them were CFC mutation sites reported in the literature. Conclusion two cases of CFC were reported for the first time in China, and all of them were MAP2K1 gene mutations. Two patients with CFC complicated with heart disease were followed up for cardiac function.
【作者单位】： 上海交通大学医学院附属上海儿童医学中心医学遗传科(分子诊断实验室);上海交通大学医学院附属同仁医院检验科;上海交通大学医学院附属上海儿童医学中心内分泌遗传代谢科;美国哈佛大学医学院附属波士顿儿童医院基因诊断实验室;
【基金】：国家自然科学基金项目(No.81472051) 上海市科委国际合作项目(No.15410722800) 上海市教委高峰计划项目(No.20152529)
【分类号】：R725.9
，
本文编号：2213770
[Abstract]:Objective to investigate the clinical phenotype and gene variation of (CFC) in Cardio-facio-cutaneous syndrome. Methods DNA, from peripheral blood of 2 CFC children and their parents were detected by high throughput sequencing of target genes and verified by Sanger sequencing. Results the two children were all Han women, 13 months old and 7 and a half years old, respectively, with similar craniofacial features, such as epicanthus, flat nose, thin hair, etc. All cases were accompanied by growth retardation and epileptic seizure history. 1 case had T wave change and P-R interval was normal, and 1 case had normal electrocardiogram. Gene analysis showed that there was a heterozygous missense variation on exon 3 of MAP2K1 gene in two children, namely c. 383 GTP. Gly128Val and c. 389 AGP. Tyr130 Cys. all of them were CFC mutation sites reported in the literature. Conclusion two cases of CFC were reported for the first time in China, and all of them were MAP2K1 gene mutations. Two patients with CFC complicated with heart disease were followed up for cardiac function.
【作者单位】： 上海交通大学医学院附属上海儿童医学中心医学遗传科(分子诊断实验室);上海交通大学医学院附属同仁医院检验科;上海交通大学医学院附属上海儿童医学中心内分泌遗传代谢科;美国哈佛大学医学院附属波士顿儿童医院基因诊断实验室;
【基金】：国家自然科学基金项目(No.81472051) 上海市科委国际合作项目(No.15410722800) 上海市教委高峰计划项目(No.20152529)
【分类号】：R725.9
，
本文编号：2213770
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