神经纤维瘤病Ⅰ型:新发突变1例并文献复习

Neurofibromatosis type I:a case of novel mutation and review of literature

目的报道1例临床确诊神经纤维瘤病Ⅰ型(NF1)家系的临床特征及该基因的新突变位点。方法回顾先证者及其家系的临床资料,并对所有家庭成员进行全面的医学检查和分子遗传分析。结果先证者及其母亲均存在NF1基因第14个外显子的错义突变,c.1586T>G,而在非患病的家庭成员中没有发现该突变。结论发现NFI基因一个新的错义突变,可能是导致该家系NF1的原因。另外,合并身材矮小的NF1患者均应行颅脑磁共振(MRI)检查排除鞍区肿瘤,以及生长激素激发试验评估激素分泌情况,追溯发育迟缓的原因。

Objective To report the clinical features of a pedigree of clinically confirmed neurofibromatosis type I(NF1)and a novel mutation of NF1 gene.Methods Clinical data of a proband and his family were reviewed,and a comprehensive medical examination and molecular genetic analysis of all family members were performed.Results A missense mutation in exon 14 of the NF1 gene,c.1586 T>G,was detected in the proband and his mother,but not in the non-diseased family members or normal controls.Conclusion We identified a novel missense mutation in the NFI gene,which may be responsible for neurofibromatosis typeⅠin this family.In addition,NF1 patients with short stature should receive a cranial MRI to rule out tumors in the saddle area,and a growth hormone stimulation test to assess hormone secretion so as to trace the cause of growth retardation.