Expanded phenotypic spectrum of JAG1-associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1.
作者信息
Li Dong, Sheppard Sarah E, Peroutka Christina, Barnes Caitlin, Reid Janet R, Smith Christopher L, Dori Yoav, Hakonarson Hakon
机构信息
Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Division of Genetics, University of Virginia, Charlottesville, Virginia, USA.
出版信息
Clin Genet. 2021 May;99(5):742-743. doi: 10.1111/cge.13915. Epub 2021 Jan 12.
Abstract
摘要
相似文献
1
Expanded phenotypic spectrum of JAG1-associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1.JAG1相关疾病的扩展表型谱：伴有JAG1致病变异的中央传导性淋巴管异常
Clin Genet. 2021 May;99(5):742-743. doi: 10.1111/cge.13915. Epub 2021 Jan 12.
2
Alagille syndrome with atypical phenotype diagnosed by molecular tests: unreported JAG1 mutation.
Med Clin (Barc). 2017 Nov 22;149(10):462. doi: 10.1016/j.medcli.2017.05.007. Epub 2017 Jun 23.
3
Previously Undescribed Family Mutation in the JAG1 Gene as a Cause for Alagille Syndrome.
J Pediatr Gastroenterol Nutr. 2017 May;64(5):e135-e136. doi: 10.1097/MPG.0000000000000702.
4
Novel Deletion Variant in Patient with Atypical Alagille Syndrome.患者存在非典型 Alagille 综合征的新型缺失变异。
Int J Mol Sci. 2019 Dec 11;20(24):6247. doi: 10.3390/ijms20246247.
5
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.Alagille 综合征突变更新：Jag1 和 Notch2 突变频率的综合概述及错义变异分类的深入了解。
Hum Mutat. 2019 Dec;40(12):2197-2220. doi: 10.1002/humu.23879. Epub 2019 Aug 26.
6
Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome.JAG1突变和/或阿拉吉耶综合征患者心血管表型及基因型-表型相关性分析
Circulation. 2002 Nov 12;106(20):2567-74. doi: 10.1161/01.cir.0000037221.45902.69.
7
Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations.阿拉吉耶综合征的小鼠模型及锯齿蛋白1错义突变的机制
Gastroenterology. 2018 Mar;154(4):1080-1095. doi: 10.1053/j.gastro.2017.11.002. Epub 2017 Nov 21.
8
Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome.韩国阿拉吉列综合征患儿的临床特征、预后及基因分析
Pediatr Int. 2015 Aug;57(4):552-7. doi: 10.1111/ped.12602. Epub 2015 May 6.
9
Generation of iPSC line NCHi012-A from a patient with Alagille syndrome and heterozygous pathogenic variant in the JAG1 gene.从一名 Alagille 综合征患者和 JAG1 基因杂合致病性变异体中生成诱导多能干细胞系 NCHi012-A。
Stem Cell Res. 2023 Sep;71:103177. doi: 10.1016/j.scr.2023.103177. Epub 2023 Aug 1.
10
An Atypical Presentation of Alagille Syndrome.阿拉吉列综合征的一种非典型表现。
Pediatr Dev Pathol. 2018 Jan-Feb;21(1):79-83. doi: 10.1177/1093526616686902. Epub 2017 Jan 25.
引用本文的文献
1
Central conducting lymphatic anomaly: from bench to bedside.中央传导性淋巴管异常：从实验室到临床
J Clin Invest. 2024 Apr 15;134(8):e172839. doi: 10.1172/JCI172839.
2
Genomic profiling informs diagnoses and treatment in vascular anomalies.基因组分析为血管异常的诊断和治疗提供信息。
Nat Med. 2023 Jun;29(6):1530-1539. doi: 10.1038/s41591-023-02364-x. Epub 2023 Jun 1.
3
Pathogenic variants in PIK3CA are associated with clinical phenotypes of kaposiform lymphangiomatosis, generalized lymphatic anomaly, and central conducting lymphatic anomaly.PIK3CA基因的致病性变异与卡波西样淋巴管瘤病、泛发性淋巴管异常和中央传导性淋巴管异常的临床表型相关。
Pediatr Blood Cancer. 2023 May 17:e30419. doi: 10.1002/pbc.30419.
4
Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly.中央淋巴导水管异常患者队列的遗传学病因和基因型表型相关性。
Eur J Hum Genet. 2022 Sep;30(9):1022-1028. doi: 10.1038/s41431-022-01123-9. Epub 2022 May 24.
5
Chylous cyst-venous shunt for the management of central conducting lymphatic anomaly.乳糜囊肿-静脉分流术治疗中央传导性淋巴管异常
J Vasc Surg Cases Innov Tech. 2021 Feb 26;7(2):235-238. doi: 10.1016/j.jvscit.2021.02.005. eCollection 2021 Jun.
本文引用的文献
1
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.Alagille 综合征突变更新：Jag1 和 Notch2 突变频率的综合概述及错义变异分类的深入了解。
Hum Mutat. 2019 Dec;40(12):2197-2220. doi: 10.1002/humu.23879. Epub 2019 Aug 26.
2
Notch1 functions as a negative regulator of lymphatic endothelial cell differentiation in the venous endothelium.Notch1 在静脉内皮中作为淋巴管内皮细胞分化的负调控因子发挥作用。
Development. 2013 Jun;140(11):2365-76. doi: 10.1242/dev.083865. Epub 2013 Apr 24.
3
Notch restricts lymphatic vessel sprouting induced by vascular endothelial growth factor.Notch 限制血管内皮生长因子诱导的淋巴管芽生。
Blood. 2011 Jul 28;118(4):1154-62. doi: 10.1182/blood-2010-11-317800. Epub 2011 May 12.
4
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.法洛四联症或肺动脉瓣狭窄患者的 Jagged1 (JAG1) 突变。
Hum Mutat. 2010 May;31(5):594-601. doi: 10.1002/humu.21231.
5
Lymphatic abnormalities in Alagille's syndrome.阿拉吉列综合征中的淋巴系统异常。
Br Heart J. 1991 Mar;65(3):168-70. doi: 10.1136/hrt.65.3.168.
Zotero 插件