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Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.神经纤维瘤蛋白中的精氨酸（1809）替代：1型神经纤维瘤病基因型与表型相关性的进一步证据。
Eur J Hum Genet. 2015 Nov;23(11):1460-1. doi: 10.1038/ejhg.2015.93. Epub 2015 May 13.
2
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.神经纤维瘤蛋白中的p.Arg1809Cys替代与无神经纤维瘤的独特NF1表型相关。
Eur J Hum Genet. 2015 Aug;23(8):1068-71. doi: 10.1038/ejhg.2014.243. Epub 2014 Nov 5.
3
Neurofibromatosis Type 1 Without Neurofibromas: Genotype-Phenotype Correlations in NF1.无神经纤维瘤的1型神经纤维瘤病：NF1中的基因型-表型相关性
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Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.NF1基因的复发性突变在1型神经纤维瘤病患者中很常见。
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Genotype-phenotype correlation in type 1 neurofibromatosis: pMet992del mutation and milder disease.
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Am J Med Genet A. 2009 Jun;149A(6):1263-7. doi: 10.1002/ajmg.a.32837.
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Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review.神经纤维瘤病-努南综合征：26例患者的前瞻性单中心研究及文献综述
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Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of Exon 24 [19a].1型神经纤维瘤病的基因型-表型相关性：与导致外显子24框内缺失的剪接变体相关的轻度表型的证据[19a]
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Genotype-phenotype correlations of neurofibromatosis type 1: a cross-sectional study from a large Chinese cohort.神经纤维瘤病 1 型的基因型-表型相关性：一项来自大型中国队列的横断面研究。
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A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.脊髓神经纤维瘤病的转化研究方法：来自意大利广泛队列的临床与分子见解
Cancers (Basel). 2022 Dec 22;15(1):59. doi: 10.3390/cancers15010059.
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Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a "Quasi-Incomplete" NF1 phenotype.携带Arg1809替代且无脉络膜异常的患者：“准不完全”型神经纤维瘤病1型表型的进一步证据。
Eur J Hum Genet. 2023 Feb;31(2):136-137. doi: 10.1038/s41431-022-01236-1. Epub 2022 Nov 21.
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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent Gene Variants and Correlations with Neurocognitive Phenotype.神经纤维瘤病 1 型的基因型-表型相关性：新的和反复出现的基因突变的鉴定及其与神经认知表型的相关性。
Genes (Basel). 2022 Jun 23;13(7):1130. doi: 10.3390/genes13071130.
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Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity.1 型神经纤维瘤病患者的骨骼代谢：阳光暴露和身体活动的关键作用。
Sci Rep. 2022 Mar 14;12(1):4368. doi: 10.1038/s41598-022-07855-4.
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Neurofibromin and suppression of tumorigenesis: beyond the GAP.神经纤维瘤病和抑瘤作用：不仅仅是 GAP。
Oncogene. 2022 Feb;41(9):1235-1251. doi: 10.1038/s41388-021-02156-y. Epub 2022 Jan 23.

本文引用的文献

1
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.神经纤维瘤蛋白中的p.Arg1809Cys替代与无神经纤维瘤的独特NF1表型相关。
Eur J Hum Genet. 2015 Aug;23(8):1068-71. doi: 10.1038/ejhg.2014.243. Epub 2014 Nov 5.
2
SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information.SWISS-MODEL：利用进化信息进行蛋白质三级和四级结构建模。
Nucleic Acids Res. 2014 Jul;42(Web Server issue):W252-8. doi: 10.1093/nar/gku340. Epub 2014 Apr 29.
3
Cognitive and psychosocial phenotype of young children with neurofibromatosis-1.1型神经纤维瘤病幼儿的认知和心理社会表型
J Int Neuropsychol Soc. 2014 Jan;20(1):88-98. doi: 10.1017/S1355617713001227. Epub 2013 Nov 15.
4
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?神经纤维瘤病 1 型（NF1）的基因型-表型关联：NF1 剪接位点突变患者的肿瘤并发症风险增加？
Hum Genomics. 2012 Aug 13;6(1):12. doi: 10.1186/1479-7364-6-12.
5
Assessment of executive function and attention in children with neurofibromatosis type 1: relationships between cognitive measures and real-world behavior.评估 1 型神经纤维瘤病患儿的执行功能和注意力：认知测量与现实行为之间的关系。
Child Neuropsychol. 2011;17(4):313-29. doi: 10.1080/09297049.2010.542746.
6
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.1 型神经纤维瘤病中的 NF1 微缺失：从基因型到表型。
Hum Mutat. 2010 Jun;31(6):E1506-18. doi: 10.1002/humu.21271.
7
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.解析神经纤维瘤病1型临床表型变异的遗传基础。
Hum Mol Genet. 2009 Aug 1;18(15):2768-78. doi: 10.1093/hmg/ddp212. Epub 2009 May 5.
8
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.1型神经纤维瘤病（NF1）基因第17外显子中一个3碱基对的框内缺失（c.2970 - 2972 delAAT）与皮肤神经纤维瘤缺失相关：NF1临床显著基因型 - 表型相关性的证据
Am J Hum Genet. 2007 Jan;80(1):140-51. doi: 10.1086/510781. Epub 2006 Dec 8.
9
Molecular diagnosis of neurofibromatosis type 1: 2 years experience.1型神经纤维瘤病的分子诊断：2年经验
Fam Cancer. 2007;6(1):21-34. doi: 10.1007/s10689-006-9001-3.
10
A novel bipartite phospholipid-binding module in the neurofibromatosis type 1 protein.1型神经纤维瘤病蛋白中一种新型的双组分磷脂结合模块。
EMBO Rep. 2006 Feb;7(2):174-9. doi: 10.1038/sj.embor.7400602.

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

作者信息

Santoro Claudia, Maietta Anna, Giugliano Teresa, Melis Daniela, Perrotta Silverio, Nigro Vincenzo, Piluso Giulio

机构信息

Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Seconda Università degli Studi di Napoli, Napoli, Italy.

Dipartimento di Biochimica Biofisica e Patologia Generale, Seconda Università degli Studi di Napoli, Napoli, Italy.

出版信息

Eur J Hum Genet. 2015 Nov;23(11):1460-1. doi: 10.1038/ejhg.2015.93. Epub 2015 May 13.

DOI:10.1038/ejhg.2015.93
PMID:25966637
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4613473/
Abstract
摘要