【摘要】：目的探討Cardio-facio-cutaneous綜合征(CFC)的臨床表型及基因變異特征。方法提取2例CFC患兒及其父母外周血DNA,采用靶向基因高通量測序技術檢測變異基因,并運用Sanger測序進行驗證。結果 2例患兒均為漢族女性,分別為13個月和7歲半,有內眥贅皮、鼻梁塌平、頭發(fā)稀疏等相似的顱面部特征,均伴有生長發(fā)育遲緩及癲癇發(fā)作史。1例心電圖有T波變化,P-R間期正常高限;另1例心電圖正常�；驒z測顯示,2例患兒在MAP2K1基因3號外顯子上各有一處雜合的錯義變異,分別為c.383GT,p.Gly128Val和c.389AG,p.Tyr130Cys,且均為新生突變(de novo),均系文獻報道過的CFC變異位點。結論 2例為國內首次報道CFC病例,且均為MAP2K1基因突變型。因既往報道CFC患兒大多合并心臟病變,2例患兒均繼續(xù)隨訪心臟功能。
[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.
【作者單位】： 上海交通大學醫(yī)學院附屬上海兒童醫(yī)學中心醫(yī)學遺傳科(分子診斷實驗室);上海交通大學醫(yī)學院附屬同仁醫(yī)院檢驗科;上海交通大學醫(yī)學院附屬上海兒童醫(yī)學中心內分泌遺傳代謝科;美國哈佛大學醫(yī)學院附屬波士頓兒童醫(yī)院基因診斷實驗室;
【基金】：國家自然科學基金項目(No.81472051) 上海市科委國際合作項目(No.15410722800) 上海市教委高峰計劃項目(No.20152529)
【分類號】：R725.9
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本文編號：2213770