Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a "Quasi-Incomplete" NF1 phenotype.
作者信息
Santoro Claudia, Boccia Rosa, Iovino Claudio, Piluso Giulio, Perrotta Silverio, Simonelli Francesca
机构信息
Child and Adolescent Neuropsychiatry Clinic, Department of Mental and Physical Health and Preventive Medicine, University of Campania "Luigi Vanvitelli", Via Pansini 5, 80131, Naples, Italy.
Department of Women's and Children's Health, and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Via De Crecchio 4, 80138, Naples, Italy.
出版信息
Eur J Hum Genet. 2023 Feb;31(2):136-137. doi: 10.1038/s41431-022-01236-1. Epub 2022 Nov 21.
Abstract
摘要
相似文献
1
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.
2
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.NF1 中基因型-表型相关性：错义突变影响 NF1 密码子 844-848 与更严重表型相关的证据。
Am J Hum Genet. 2018 Jan 4;102(1):69-87. doi: 10.1016/j.ajhg.2017.12.001. Epub 2017 Dec 28.
3
The presence and progression of choroidal neurofibromas in a predominantly pediatric population with neurofibromatosis type-1.神经纤维瘤病 1 型患者中以儿科为主的人群中脉络膜神经纤维瘤的存在和进展。
Ophthalmic Genet. 2021 Jun;42(3):223-229. doi: 10.1080/13816810.2021.1881977. Epub 2021 Feb 17.
4
A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.一种检测1型神经纤维瘤病中截短型神经纤维瘤蛋白的新型诊断方法。
J Neurochem. 2015 Dec;135(6):1123-8. doi: 10.1111/jnc.13396. Epub 2015 Nov 12.
5
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.神经纤维瘤病-努南综合征家族中的独立NF1和PTPN11突变。
Am J Med Genet A. 2009 Jun;149A(6):1263-7. doi: 10.1002/ajmg.a.32837.
6
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.
7
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.
8
Neurofibromin in the brain.大脑中的神经纤维瘤蛋白
J Child Neurol. 2002 Aug;17(8):592-601; discussion 602-4, 646-51. doi: 10.1177/088307380201700809.
9
Physical interaction between neurofibromin and serotonin 5-HT6 receptor promotes receptor constitutive activity.神经纤维瘤蛋白与血清素5-HT6受体之间的物理相互作用促进受体组成性活性。
Proc Natl Acad Sci U S A. 2016 Oct 25;113(43):12310-12315. doi: 10.1073/pnas.1600914113. Epub 2016 Oct 10.
10
The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas.NF1基因中的Arg1038Gly错义变异导致一种无神经纤维瘤的轻度表型。
Mol Genet Genomic Med. 2019 May;7(5):e616. doi: 10.1002/mgg3.616. Epub 2019 Mar 6.
引用本文的文献
1
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations.1型神经纤维瘤病：儿科方面及基因型-表型相关性综述
Cancers (Basel). 2023 Feb 14;15(4):1217. doi: 10.3390/cancers15041217.
本文引用的文献
1
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.修订的 1 型神经纤维瘤病和莱格氏综合征的诊断标准：国际共识建议。
Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5. Epub 2021 May 19.
2
Ocular biometric parameters changes and choroidal vascular abnormalities in patients with neurofibromatosis type 1 evaluated by OCT-A.OCT-A 评估 1 型神经纤维瘤病患者的眼生物测量参数变化和脉络膜血管异常。
PLoS One. 2021 May 6;16(5):e0251098. doi: 10.1371/journal.pone.0251098. eCollection 2021.
3
Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?咖啡牛奶斑综合征中的脉络膜异常：一种新的鉴别诊断工具？
Clin Genet. 2017 Apr;91(4):529-535. doi: 10.1111/cge.12873. Epub 2016 Nov 24.
4
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.携带影响p.Arg1809的NF1错义突变的患者中，努南综合征特征（包括身材矮小和肺动脉狭窄）的高发生率：基因型-表型相关性。
Hum Mutat. 2015 Nov;36(11):1052-63. doi: 10.1002/humu.22832. Epub 2015 Aug 21.
5
Choroidal abnormalities in neurofibromatosis type 1 detected by near-infrared reflectance imaging in paediatric population.小儿群体中通过近红外反射成像检测到的1型神经纤维瘤病脉络膜异常。
Acta Ophthalmol. 2015 Dec;93(8):e667-71. doi: 10.1111/aos.12750. Epub 2015 May 19.
6
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.
7
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.
8
Choroidal abnormalities detected by near-infrared reflectance imaging as a new diagnostic criterion for neurofibromatosis 1.近红外反射成像检测到的脉络膜异常作为神经纤维瘤病 1 的新诊断标准。
Ophthalmology. 2012 Feb;119(2):369-75. doi: 10.1016/j.ophtha.2011.07.046. Epub 2011 Oct 2.
9
A highly sensitive genetic protocol to detect NF1 mutations.一种高灵敏度的基因检测协议，用于检测 NF1 突变。
J Mol Diagn. 2011 Mar;13(2):113-22. doi: 10.1016/j.jmoldx.2010.09.002.
Zotero 插件