CAJ | 학술논문

目的采用基因诊断一例散发的仅具有咖啡色斑的Ⅰ型神经纤维瘤病患儿.方法在患者家系调查的基础上,收集患者和父母的血样,并采集健康对照血样100份,采用PCR技术对Ⅰ型神经纤维瘤病致病基因NF1基因进行扩增,并对其产物进行测序.结果该患者父母及健康对照NF1基因为正常,具有咖啡色斑的患儿NF1基因第21外显子存在突变Q1174X,即第3520位碱基由胞嘧啶(C)转化为胸腺嘧啶(T),形成提前终止密码子.结论该患儿经基因诊断为一例散发的Ⅰ型神经纤维瘤病,NF1基因Q1174X突变是其致病突变.
목적 채용기인진단일례산발적부구유가배색반적Ⅰ형신경섬유류병환인.방법 재환자가계조사적기출상,수집환자화부모적혈양,병채집건강대조혈양100빈,채용PCR기술대Ⅰ형신경섬유류병치병기인NF1기인진행확증,병대기산물진행측서.결과 해환자부모급건강대조NF1기인위정상,구유가배색반적환인NF1기인제21외현자존재돌변Q1174X,즉제3520위감기유포밀정(C)전화위흉선밀정(T),형성제전종지밀마자.결론 해환인경기인진단위일례산발적Ⅰ형신경섬유류병,NF1기인Q1174X돌변시기치병돌변.
Objective To make a genetic diagnosis of sporadic neurofibromatosis type 1 with café-au-lait spots as the only presentation in a child.Methods Blood samples were collected from an 8-year-old child patient,his parents,and 100 healthy human controls.The mutation of NF1 gene was detected by PCR and direct sequencing.Results No mutation was detected in the NF1 gene of the parents or the healthy controls.There was a de novo nonsense mutation c.3520C ＞ T (p.Q1174X) in the NF1 gene of the patient,which leaded to a premature termination codon.Conclusions The child with café-au-lait spots as the only manifestation is diagnosed with sporadic neurofibromatosis type 1 by genetic testing.The mutation c.3520C ＞ T (p.Q1174X) may be an underlying cause of neurofibromatosis type 1.