| 一例合并枕部动静脉畸形和脊柱侧弯的神经纤维瘤病NF1基因突变分析 |
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| 引用本文： | 王小坡,陈志明杨勇 孙建方. 一例合并枕部动静脉畸形和脊柱侧弯的神经纤维瘤病NF1基因突变分析[J]. 中华皮肤科杂志, 2020, 53(10): 810-812. DOI: 10.35541/cjd.20190979 |
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| 作者姓名： | 王小坡 陈志明杨勇 孙建方 |
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| 作者单位： | 1中国医学科学院北京协和医学院皮肤病医院病理科,南京210042;2中国医学科学院北京协和医学院皮肤病医院遗传病中心,南京210042 |
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| 基金项目： | 中国医学科学院医学与健康科技创新工程项目（2017-I2M-1-017, 2018-I2M-3-006） |
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| 摘 要： | 【摘要】 患者女,15岁。因全身多发咖啡斑15年、脊柱侧弯1年余就诊。1年前因枕部动静脉畸形手术切除肿物。皮肤科检查：全身散在多个大小不等咖啡斑,最大约3 cm × 4 cm,腋窝、腹股沟雀斑。全外显子测序显示,患者NF1基因第26号外显子发生碱基T杂合缺失（c.3328delT）移码突变。患者父母及弟弟均未发现该突变。诊断：神经纤维瘤病Ⅰ型合并枕部动静脉畸形和脊柱侧弯。
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| 关 键 词： | 神经纤维瘤病1型 基因 神经纤维瘤病1型 动静脉畸形 移码突变 脊柱侧凸 |
| 收稿时间： | 2019-10-14 |
Mutation analysis in a case of neurofibromatosis type 1 complicated by occipital arteriovenous malformation and scoliosis |
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| Wang Xiaopo,Chen Zhiming,Yang Yong,Sun Jianfang. Mutation analysis in a case of neurofibromatosis type 1 complicated by occipital arteriovenous malformation and scoliosis[J]. Chinese Journal of Dermatology, 2020, 53(10): 810-812. DOI: 10.35541/cjd.20190979 |
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| Authors: | Wang Xiaopo Chen Zhiming Yang Yong Sun Jianfang |
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| Affiliation: | 1Department of Pathology, Hospital for Skin Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing 210042, China; 2Center of Hereditary Diseases, Hospital for Skin Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing 210042, China |
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| Abstract: | 【Abstract】 A 15-year-old female patient presented with multiple café-au-lait spots all over the body for 15 years and scoliosis for more than 1 year. One year prior to the presentation, the patient underwent tumor resection due to occipital arteriovenous malformation. Skin examination showed multiple scattered café-au-lait spots of various sizes all over the body with the largest café-au-lait spot measuring about 3 cm × 4 cm, and freckles on the axillae and groins. Whole exome sequencing revealed a frameshift mutation due to a heterozygous one-base deletion (c.3328delT) in exon 26 of the NF1 gene in the patient, which was not identified in the patient′ parents and her younger brother. The patient was diagnosed with neurofibromatosis type 1 complicated by occipital arteriovenous malformation and scoliosis. |
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| Keywords: | Neurofibromatosis 1 Genes neurofibromatosis 1 Arteriovenous malformations Frameshift mutation Scoliosis |
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