一例咖啡斑和幼年黄色肉芽肿患儿的基因诊断

Genetic diagnosis of a child with Café-au-lait macules and juvenile xanthogranuloma

目的对1例以多发性咖啡斑和幼年黄色肉芽肿为主要表现的患者及家系进行相关皮肤病基因检测。方法收集该家系的临床资料及外周血样,采用Panel靶向测序联合Sanger测序方法进行致病基因变异筛查。结果靶向测序发现先证者NF1基因第23外显子发生了一个缺失变异,通过Sanger测序进行验证,检测到与患儿及其母亲临床表现高度相关的NF1基因的新发变异c.3094delT(p.Cys1032Alafs),明确了1型神经纤维瘤(neurofibromatosis 1,NF1)的诊断,该变异位点尚未见报道。结论Panel靶向测序结合Sanger测序明确诊断了1例NF1,发现了新的基因变异位点,该方法为临床早期诊断、治疗NF1,以及该病的咨询及产前诊断提供了一定的基础。

Objective To explore the genetic basis for a child with café-au-lait macules and juvenile xanthogranuloma.Methods Clinical data and peripheral blood samples of the patient and her family members were collected and subjected to targeted capture and high-throughput sequencing.Candidate variant was verified by Sanger sequencing.Results A deletional variant in exon 23 of the NF1 gene was detected in the proband.Sanger sequencing has verified it as a de novo variant,which was highly correlated with the clinical manifestations of the patient and her mother.The diagnosis of neurofibromatosis 1(NF1)was established.The variant was unreported previously.Conclusion Targeted capture and next-generation sequencing combined with Sanger sequencing can facilitate early diagnosis of NF1 and provide a basis for the clinical treatment,genetic counseling and prenatal diagnosis.