两处基因杂合突变的Ⅰ型神经纤维瘤病1例  

A case of type Ⅰ neurofibromatosis with two heterozygous mutations

作　　者：李春芳 袁佳雨 李亚洲[1] 刘玉昌[1] LI Chunfang;YUAN Jiayu;LI Yazhou;LIU Yuchang(Department of Pediatric Orthopedics,the Third Hospital of Hebei Medical University,Shi jiazhuang,Hebei 050051,China)

机构地区：[1]河北医科大学第三医院小儿骨科,河北石家庄050051

出　　处：《安徽医药》2024年第8期1643-1645,共3页Anhui Medical and Pharmaceutical Journal

摘　　要：目的探究脊柱侧弯伴全身多发牛奶咖啡斑的Ⅰ型神经纤维瘤病(NF1)病儿的致病原因。方法男,7岁,因全身多发牛奶咖啡斑7年、脊柱侧弯6个月于2022年10月就诊河北医科大学第三医院。诊断为NF1。应用全外显子高通量测序和Sanger测序分别对变异位点进行筛选和验证。结果病儿NF1基因c.2033delC(exon18,NM_000267)导致氨基酸改变p.P678Rfs*10,为移码突变,为已报道的致病突变;c.2029C>A(exon18,NM_000267)导致氨基酸改变p.P677T,为错义突变,为可能致病性变异。结论NF1基因c.2033delC是导致Ⅰ型神经纤维瘤病的原因,基因c.2029C>A拟进一步扩充NF1基因变异谱,其是否能独立致病、能否影响该病的严重程度,值得临床医师的深入研究和验证。Objective To explore the cause of NF1 in a child with café-au-lait spots and scoliosis.Methods A 7-year-old male patient was admitted to the Third Hospital of Hebei Medical University in October 2022 due to multiple café-au-lait spots throughout his body for 7 years and scoliosis for 6 months.The diagnosis was NF1.Whole-exon high-throughput sequencing and Sanger sequencing were applied to screen and verify the variant sites,respectively.Results The patient's NF1 gene,c.2033delC(exon18,NM_000267),resulted in amino acid change p.P678Rfs*10,a code-shifting mutationand a reported pathogenic mutation,and c.2029C>A(exon18,NM_000267),resulted in amino acid change p.P677T,a missense mutation and a likely pathogenic variant.Conclusions The NF1gene c.2033delC is the cause of neurofibromatosis type 1.Gene c.2029C>A intends to further expand the variation spectrum of NF 1 gene.Whether it can cause the disease independently and affect the severity of the disease is worth in-depth study and verification by clinicians.

关 键 词：神经纤维瘤病 基因 神经纤维瘤病1型 基因突变 基因检测 

分 类 号：R739.4[医药卫生—肿瘤]