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

doi:10.35541/cjd.20190979

中华皮肤科杂志 ›› 2020, Vol. 53 ›› Issue (10): 810-812.doi: 10.35541/cjd.20190979

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

王小坡¹ 陈志明² 杨勇² 孙建方¹

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

收稿日期:2019-10-14 修回日期:2020-03-20 发布日期:2020-09-30
通讯作者: 孙建方 E-mail:fangmin5758@aliyun.com
基金资助:
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）

Mutation analysis in a case of neurofibromatosis type 1 complicated by occipital arteriovenous malformation and scoliosis

Wang Xiaopo¹, Chen Zhiming², Yang Yong², Sun Jianfang¹

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

Received:2019-10-14 Revised:2020-03-20 Published:2020-09-30
Contact: Sun Jianfang E-mail:fangmin5758@aliyun.com
Supported by:
CAMS Innovation Fund for Medical Sciences （2017-I2M-1-017, 2018-I2M-3-006）

摘要/Abstract

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。

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

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.

Key words: Neurofibromatosis 1, Genes, neurofibromatosis 1, Arteriovenous malformations, Frameshift mutation, Scoliosis

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

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

参考文献 13

［1］	Korf BR. Neurofibromatosis［J］. Handb Clin Neurol, 2013,111:333⁃340. doi: 10.1016/B978⁃0⁃444⁃52891⁃9.00039⁃7.
［2］	Jett K, Friedman JM. Clinical and genetic aspects of neurofibromatosis 1［J］. Genet Med, 2010,12（1）:1⁃11. doi: 10. 1097/GIM.0b013e3181bf15e3.
［3］	Feldman DS, Jordan C, Fonseca L. Orthopaedic manifestations of neurofibromatosis type 1［J］. J Am Acad Orthop Surg, 2010,18（6）:346⁃357. doi: 10.5435/00124635⁃201006000⁃00007.
［4］	Carbone M, Vittoria F, Del Sal A. Treatment of early⁃onset scoliosis with growing rods in patients with neurofibromatosis⁃1［J］. J Pediatr Orthop B, 2019,28（3）:278⁃287. doi: 10.1097/BPB. 0000000000000627.
［5］	Rerat K, Parker F, Nasser G, et al. Occurrence of multiple cerebral cavernous malformations in a patient with neurofibromatosis type 1［J］. J Neurol Sci, 2015,350（1⁃2）:98⁃100. doi: 10.1016/j.jns.2015.02.023.
［6］	Tsuda M, Umebayashi Y, Manabe M, et al. A case of arteriovenous malformation with neurofibromatosis⁃1［J］. J Dermatol, 2006,33（2）:158⁃159. doi: 10.1111/j.1346⁃8138.2006. 00036.x.
［7］	Lin YC, Chen HC. Rare complication of massive hemorrhage in neurofibromatosis with arteriovenous malformation［J］. Ann Plast Surg, 2000,44（2）:221⁃224. doi: 10.1097/00000637⁃200044020⁃00016.
［8］	Cichowski K, Jacks T. NF1 tumor suppressor gene function: narrowing the GAP［J］. Cell, 2001,104（4）:593⁃604. doi: 10. 1016/s0092⁃8674（01）00245⁃8.
［9］	Giugliano T, Santoro C, Torella A, et al. Clinical and genetic findings in children with neurofibromatosis Type 1, Legius Syndrome, and other related neurocutaneous disorders［J］. Genes （Basel）, 2019,10（8）doi: 10.3390/genes10080580.
［10］	陈志明, 王小坡, 孙建方, 等. Leguis综合征一家系基因突变分析［J］. 中华皮肤科杂志, 2020,53（4）:256⁃259. doi：10.35541/cjd.20190940.
［11］	Sakai N, Maeda T, Kawakami H, et al. Family with Legius syndrome （neurofibromatosis type 1⁃like syndrome）［J］. J Dermatol, 2015,42（7）:703⁃705. doi: 10.1111/1346⁃8138.12862.
［12］	Friedman JM, Birch PH. Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients［J］. Am J Med Genet, 1997,70（2）:138⁃143. doi: 10.1002/（sici）1096⁃8628（19970516） 70:23.0.co;2⁃u.
［13］	Upadhyaya M, Huson SM, Davies M, et al. An absence of cutaneous neurofibromas associated with a 3⁃bp inframe deletion in exon 17 of the NF1 gene （c.2970⁃2972 delAAT）: evidence of a clinically significant NF1 genotype⁃phenotype correlation［J］. Am J Hum Genet, 2007,80（1）:140⁃151. doi: 10.1086/510781.

[1]	顾安康张宇马法库孔祥君张理涛. 游泳池肉芽肿56例临床病理分析[J]. 中华皮肤科杂志, 2022, 55(9): 795-798.
[2]	鲁楠谭兴友刘香牛李莉姚树兰. 微RNA单核苷酸多态性与慢性自发性荨麻疹发病风险的关联分析[J]. 中华皮肤科杂志, 2022, 55(9): 806-809.
[3]	王建才高莹刘晓雁. Sjogren-Larsson综合征致病基因位点分析[J]. 中华皮肤科杂志, 2022, 55(9): 803-805.
[4]	刘依和陈志明冯素英杨勇. TP63基因突变导致的不伴指（趾）畸形的ADULT综合征1例[J]. 中华皮肤科杂志, 2022, 55(8): 709-712.
[5]	魏瑾臧东杰曾三武蒋靖伦文辉. Dowling-Degos病1家系KRT5基因新突变分析[J]. 中华皮肤科杂志, 2022, 55(8): 703-705.
[6]	杨舟徐哲王珊徐教生韩晓锋马琳. 隐性营养不良型大疱性表皮松解症4例COL7A1基因突变分析[J]. 中华皮肤科杂志, 2022, 55(8): 653-658.
[7]	贾苇雪王建波罗玲玲张媛媛王雪郭右铭孔令卓姜祎群李诚让, . CRISPR-Cas9诱导KRT5基因突变的HaCaT细胞对共培养人黑素细胞的影响研究[J]. 中华皮肤科杂志, 2022, 55(8): 659-664.
[8]	王建波张帅邵依窦进法王晨张守民李振鲁. 遗传性对称性色素异常症2例ADAR基因突变分析及家系调查[J]. 中华皮肤科杂志, 2022, 55(8): 690-692.
[9]	刘林莉严高武邓玲俐鲁青莲刘婷婷欧阳飞于春水. 典型结节性硬化症1例临床表型及基因变异分析[J]. 中华皮肤科杂志, 2022, 55(8): 713-716.
[10]	朱玲玉高敏段晓倩周文明. 色素失禁症1家系NEMO基因新致病突变报道[J]. 中华皮肤科杂志, 2022, 55(8): 700-703.
[11]	刘娟, 陈志明杨勇. 先天性鱼鳞病样红皮病3家系PNPLA1基因突变分析[J]. 中华皮肤科杂志, 2022, 55(8): 685-689.
[12]	晋亮刘玲. 部分遗传性皮肤病的治疗进展[J]. 中华皮肤科杂志, 2022, 55(8): 735-739.
[13]	鲍迎秋张艳君李博宫静傅裕徐哲. 隐性遗传性营养不良型大疱性表皮松解症的基因治疗进展[J]. 中华皮肤科杂志, 2022, 55(8): 739-743.
[14]	刘晨美陈鸿裕陈平姣曾抗李常兴. 眼皮肤白化病1家系致病基因鉴定[J]. 中华皮肤科杂志, 2022, 55(8): 706-709.
[15]	闫娜刘燕李华军李洋谭宣丰杨怡晋亮. ACVRL1基因突变致合并主动脉窦瘤的遗传性出血性毛细血管扩张症1家系调查[J]. 中华皮肤科杂志, 2022, 55(8): 716-720.

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

Mutation analysis in a case of neurofibromatosis type 1 complicated by occipital arteriovenous malformation and scoliosis

PDF

PDF (Mobile)

可视化

摘要/Abstract

引用本文

使用本文

参考文献 13

相关文章 15

Metrics

本文评价

推荐阅读 10