一个Ⅰ型神经纤维瘤散发病例的临床外显子测序分析

Analysis of a sporadic patient with neurofibromatosis type 1 by clinical exome sequencing

目的对一例怀疑为Ⅰ型神经纤维瘤(neurofibromatosis type 1,NF1)的患儿进行临床外显子测序分析,找出致病的基因突变位点。方法收集患儿的临床资料,提取DNA进行临床外显子捕获和测序,锁定候选基因致病位点,针对变异位点对患者和患者父母进行Sanger测序验证。结果该家系中先证者在NF1基因上检测到一个剪接突变c.5943+1G>A,先证者的父母均未检测到该突变。结论临床外显子测序技术帮助确诊1例Ⅰ型神经纤维瘤,NF1基因的剪接突变c.5943+1G>A可能是该患者的致病原因。

Objective To analyze the genetic cause in a patient suspected as neurofibromatosis type 1(NF1)by clinical exome sequencing.Methods The patient was investigated by clinical exome sequencing to identify the candidate pathogenic variants,and Sanger sequencing was conducted to confirm the result on the patient and her parents.Results A heterozygous splicing variant c.5943+1G>A of the NF1 gene was detected in the proband of the pedigree,while her parents did not carry the variant.Conclusion Clinical exome sequencing aids the diagnosis of NF1,and the c.5943+1G>A splicing variant of the NF1 gene found in the patient could be the cause of NF1.