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山东大学学报 (医学版) ›› 2024, Vol. 62 ›› Issue (4): 120-124.doi: 10.6040/j.issn.1671-7554.0.2024.0283

• 病例报道 • 上一篇    

NF1新突变致Ⅰ型神经纤维瘤病的遗传学分析

王一丹,杜润璇,石雪冬,赵兵依,高健   

  1. 河北省人民医院生殖遗传科, 河北 石家庄 050051
  • 发布日期:2024-05-16
  • 通讯作者: 高健. E-mail:gaojian8703@163.com
  • 基金资助:
    河北省卫健委基金项目(GZ2020033);河北省政府资助专科带头人培养项目(2018674)

  • Published:2024-05-16

关键词: Ⅰ型神经纤维瘤病, NF1基因, 移码突变, 全外显子组测序, 遗传咨询

中图分类号: 

  • R715.5
[1] Kresak JK, Walsh M. Neurofibromatosis: a review of NF1, NF2, and schwannomatosis[J]. J Pediatr Genet, 2016, 5(2): 98-104.
[2] Napolitano F, DellAquila M, Terracciano C, et al. Genotype-phenotype correlations in neurofibromatosis type 1: identification of novel and recurrent NF1 gene variants and correlations with neurocognitive phenotype[J]. Genes(Basel), 2022, 13(7): 1130.
[3] Cimino PJ, Gutmann DH. Neurofibromatosis type 1[J]. Handb Clin Neurol, 2018, 148: 799-811. doi:10.1016/b978-0-444-64076-5.00051-x.
[4] Legius E, Brems H. Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism[J]. Child’s Nerv Syst, 2020, 36(10): 2285-2295.
[5] Vogel AC, Gutmann DH, Morris SM. Neurodevelopmental disorders in children with neurofibromatosis type 1[J]. Dev Med Child Neurol, 2017, 59(11): 1112-1116.
[6] Ece Solmaz A, Isik E, Atik T, et al. Mutation spectrum of the NF1 gene and genotype-phenotype correlations in Turkish patients: seventeen novel pathogenic variants[J]. Clin Neurol Neurosurg, 2021, 208: 106884. doi:10.1016/j.clineuro.2021.106884.
[7] 王楷, 王强. 神经纤维瘤病Ⅰ型一家系NF1基因突变分析及文献复习[J]. 实用皮肤病学杂志, 2022,15(3): 151-154. WANG Kai, WANG Qiang. Gene mutation analysis in a Chinese pedigree with neurofibromatosis Ⅰ and literature review[J]. Journal of Practical Dermatology, 2022,15(3): 151-154.
[8] Guo XH, Jin X, Wang B, et al. Identifying a novel frameshift pathogenic variant in a Chinese family with neurofibromatosis type 1 and review of literature[J]. Int J Ophthalmol, 2023, 16(1): 47-52.
[9] Bergoug M, Doudeau M, Godin F, et al. Neurofibromin structure, functions and regulation[J]. Cells, 2020, 9(11): E2365.
[10] Welti S, Kühn S, DAngelo I, et al. Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin[J]. Hum Mutat, 2011, 32(2): 191-197.
[11] Scheffzek K, Welti S. Pleckstrin homology(PH)like domains - versatile modules in protein-protein interaction platforms[J]. FEBS Lett, 2012, 586(17): 2662-2673.
[12] Luo G, Kim J, Song K. The C-terminal domains of human neurofibromin and its budding yeast homologs Ira1 and Ira2 regulate the metaphase to anaphase transition[J]. Cell Cycle, 2014, 13(17): 2780-2789.
[13] Anastasaki C, Orozco P, Gutmann DH. RAS and beyond: the many faces of the neurofibromatosis type 1 protein[J]. Dis Model Mech, 2022, 15(2): dmm049362.
[14] Guo HF, Tong JY, Hannan F, et al. A neurofibromatosis-1-regulated pathway is required for learning in Drosophila[J]. Nature, 2000, 403: 895-898. doi:10.1038/35002593.
[15] Brown JA, Diggs-Andrews KA, Gianino SM, et al. Neurofibromatosis-1 heterozygosity impairs CNS neuronal morphology in a cAMP/PKA/ROCK-dependent manner[J]. Mol Cell Neurosci, 2012, 49(1): 13-22.
[16] Ko JM, Sohn YB, Jeong SY, et al. Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1[J]. Pediatr Neurol, 2013, 48(6): 447-453.
[17] Kehrer-Sawatzki H, Cooper DN. Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions[J]. Hum Genet, 2021, 140(12):1635-1649.
[18] Peduto C, Zanobio M, Nigro V, et al. Neurofibromatosis type 1: pediatric aspects and review of genotype-phenotype correlations[J]. Cancers(Basel), 2023, 15(4): 1217.
[19] 刘妍, 袁裕衡, 马明圣, 等. NF1基因突变致1型神经纤维瘤病8例临床分析[J]. 临床儿科杂志, 2016, 34(11): 819-824. LIU Yan, YUAN Yuheng, MA Mingsheng, et al. NF1 mutation analysis in 8 Chinese patients with neuroifbromatosis type 1[J]. Journal of Clinical Pediatrics, 2016, 34(11): 819-824.
[20] 吴凡, 姬辛娜, 陈倩. 1型神经纤维瘤病发病机制及治疗进展[J]. 中华儿科杂志, 2023, 61(8): 757-760. WU Fan, JI Xinna, CHEN Qian. Research progress on pathogenesis and treatment of neurofibromatosis type 1[J]. Chinese Journal of Pediatrics, 2023, 61(8): 757-760.
[21] Pellerino A, Verdijk RM, Nichelli L, et al. Diagnosis and treatment of peripheral and cranial nerve tumors with expert recommendations: an EUropean network for RAre CANcers(EURACAN)initiative[J]. Cancers(Basel), 2023, 15(7): 1930.
[22] Robertson KA, Nalepa G, Yang FC, et al. Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: a phase 2 trial[J]. Lancet Oncol, 2012, 13(12): 1218-1224.
[23] Widemann BC, Dombi E, Gillespie A, et al. Phase 2 randomized, flexible crossover, double-blinded, placebo-controlled trial of the farnesyltransferase inhibitor tipifarnib in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas[J]. Neuro Oncol, 2014, 16(5): 707-718.
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