心-面-皮肤综合征临床特征及基因突变分析(附1例报告及文献复习)

Clinical Features and Gene Mutation Analysis of A Cardio-Facio-Cutaneous Syndrome and Literature Review

目的探讨心-面-皮肤(CFC)综合征的临床特征及基因变异位点,分析CFC综合征的临床表型与基因型的相关性关系。方法收集1例CFC综合征患儿的临床及诊疗过程资料,结合文献进行分析讨论。采集患儿及其父母外周血,提取基因组DNA,使用高通量测序仪(Illumina NovaSeq6000)进行测序,并使用Sanger测序进行验证。结果患儿具有典型的CFC综合征面部特征,伴有智力低下、发育迟缓、癫癎发作等神经系统症状。Sanger测序分析结果显示:患儿BRAF(NM_004333.4)基因存在一杂合变异位点c.770A>G(p.Q257R),未发现其父母有上述变异,该变异为新生变异,系文献已报道的变异位点,是导致患儿致病因素。结论以神经系统症状为主要临床特征的CFC综合征可由BRAF基因变异导致。

Aim To investigate the clinical characteristics and gene mutation sites of cardio-faciocutaneous(CFC)syndrome.Methods Genomic DNA was extracted from the peripheral blood of the proband and his parents,sequenced with a high-throughput sequencer(Illumina NovaSeq6000)and verified with Sanger sequencing.Results This case has typical facial features of CFC syndrome and neurological symptoms such as mental retardation,growth retardation and seizures.Sanger sequencing analysis showed that there was a heterozygous site c.770A>G(p.Q257R)in BRAF(NM_004333.4)gene.His parents did not have the above mutation.This mutation is a de novo mutation and its pathogenesis has been reported in the literature.Conclusion CFC syndrome with neurological symptoms as the main symptoms was caused by BRAF gene mutation.