中华皮肤科杂志 ›› 2013, Vol. 46 ›› Issue (7): 511-512.

• 研究报道 • 上一篇    下一篇

基因检测诊断仅有咖啡色斑表现的儿童Ⅰ型神经纤维瘤病一例

孙忠辉1,李明2,郭韫懿1,姚志荣3   

  1. 1. 上海市奉贤区皮肤病防治所
    2. 上海交通大学医学院附属新华医院
    3. 上海交通大学医学院新华医院皮肤科
  • 收稿日期:2012-07-12 修回日期:2013-02-18 出版日期:2013-07-15 发布日期:2013-07-01
  • 通讯作者: 姚志荣 E-mail:dermatology.yao@sohu.com
  • 基金资助:
    上海市自然科学基金

Genetic diagnosis of sporadic neurofibromatosis type 1 with café-au-lait spots as the only presentation in a child

  • Received:2012-07-12 Revised:2013-02-18 Online:2013-07-15 Published:2013-07-01
  • Supported by:
    Shanghai Municipal Natural Science Foundation

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摘要： 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。

关键词: 神经纤维瘤病, 咖啡乳斑, 基因, 儿童

Abstract: SUN Zhong-hui *, LI Ming, GUO Yun-yi, YAO Zhi-rong. *Department of Dermatology, Fengxian District Institute of Dermatology, Shanghai 201408, China Corresponding author: YAO Zhi-rong, Email: zryaosmu@sohu.com 【Abstract】 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 NFl gene was detected by PCR and direct sequencing． Results No mutation was detected in the NFl gene of the parents or the healthy controls. There was a de novo nonsense mutation c.3520C ＞ T （p. Q1174X） in the NFl 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.

Key words: neurofibromatosis