神经纤维瘤病1型伴癫痫患者NF1基因突变的患者报道  

A Case Report of NF1 Gene Mutation in A Patient with Neurofibromatosis Type 1 with Epilepsy

作　　者：莫连芹 邱钟燕[1] 黄栋[1] 王予川[1] MO Lianqin;QIU Zhongyan;HUANG Dong;WANG Yuchuan(Department of Pediatrics,GuizhouPeople’s Hospital,Guiyang,Guizhou 550002,China)

机构地区：[1]贵州省人民医院儿科,贵州贵阳550002

出　　处：《大医生》2019年第8期168-169,178,共3页Doctor

摘　　要：女性患儿全身多发皮肤色素沉着斑、癫痫、脊髓空洞症,检出NF1基因(NM:001128147)出现移码突变c.1737dupT:p.Y579fs,经检测遗传来自父方。患儿诊断为神经纤维瘤病1型,其主要致病基因为NF1基因突变。对于临床表型疑似患者应早期进行基因检测以明确诊断及遗传咨询。In a female children with multiple skin pigmentation spot,epilepsy and syringomyelia,NF1 gene(NM:001128147)was found to have a frameshift mutation c.1737dupT:P.Y579fs,which was inherited from the paternal side after testing.Neurofibromatosis type 1 was diagnosed,and NF1 gene mutation was the main pathogenic gene of neurofibromatosis type 1.Genetic testing should be performed early in patients with suspected clinical phenotypes to identify diagnosis and genetic counseling.

关 键 词：神经纤维瘤病1型 NF1基因 癫痫 多毛 脊髓空洞症 

分 类 号：R73[医药卫生—肿瘤]