A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.
作者信息
Loucks Catrina, Parboosingh Jillian S, Chong Jessica X, Ober Carole, Siu Victoria M, Hegele Robert A, Rupar C Anthony, McLeod D Ross, Pinto Alfredo, Chudley Albert E, Innes A Micheil
机构信息
Department of Medical Genetics, Alberta Children's Hospital and Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, Alberta, Canada.
出版信息
Am J Med Genet A. 2012 May;158A(5):1229-32. doi: 10.1002/ajmg.a.35302. Epub 2012 Apr 11.
Abstract
摘要
相似文献
1
A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.一种共同的奠基者突变是北美老殖民地（荷兰-德国）门诺派和哈特派患者限制性皮肤病的基础。
Am J Med Genet A. 2012 May;158A(5):1229-32. doi: 10.1002/ajmg.a.35302. Epub 2012 Apr 11.
2
Unique disease heritage of the Dutch-German Mennonite population.荷兰-德国门诺派人群独特的疾病遗传特征。
Am J Med Genet A. 2008 Apr 15;146A(8):1072-87. doi: 10.1002/ajmg.a.32061.
3
A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.BBS2 中的一个 founder 突变导致了哈特派人群中的 Bardet-Biedl 综合征：SNP 阵列在遗传异质性疾病中的应用。
Clin Genet. 2010 Nov;78(5):424-31. doi: 10.1111/j.1399-0004.2010.01481.x.
4
Clinical genetics and the Hutterite population: a review of Mendelian disorders.临床遗传学与哈特派人群：孟德尔疾病综述
Am J Med Genet A. 2008 Apr 15;146A(8):1088-98. doi: 10.1002/ajmg.a.32245.
5
A shared founder mutation underlies lethal restrictive dermopathy in the Austronesian aboriginal Atayal tribe of Taiwan.台湾南岛语系原住民泰雅族中，致死性限制性皮肤发育不全症是由一个共同的奠基者突变引起的。
J Formos Med Assoc. 2015 Oct;114(10):1017-9. doi: 10.1016/j.jfma.2014.08.007. Epub 2014 Sep 26.
6
Founder mutations among the Dutch.荷兰人群中的奠基者突变。
Eur J Hum Genet. 2004 Jul;12(7):591-600. doi: 10.1038/sj.ejhg.5201151.
7
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.桥粒芯胶蛋白2（DSC2）的纯合子奠基者突变在哈特派人群中导致致心律失常性心肌病。
Circ Cardiovasc Genet. 2013 Aug;6(4):327-36. doi: 10.1161/CIRCGENETICS.113.000097. Epub 2013 Jul 17.
8
Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program.北美哈特派信徒（加拿大和美国）中的肝肉碱棕榈酰转移酶1（CPT1 A）缺乏症：奠基者效应的证据及基于DNA的新生儿筛查项目的初步研究结果
Mol Genet Metab. 2001 May;73(1):55-63. doi: 10.1006/mgme.2001.3149.
9
On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.BRCA1 c.5266dupC（5382insC）在欧洲人群中的起源和扩散。
Eur J Hum Genet. 2011 Mar;19(3):300-6. doi: 10.1038/ejhg.2010.203. Epub 2010 Dec 1.
10
A case of restrictive dermopathy in a Hutterite newborn: Diagnosis and creative skin-directed management.一例哈特派新生儿限制性皮肤病：诊断与创造性皮肤导向管理。
Pediatr Dermatol. 2024 Sep-Oct;41(5):942-944. doi: 10.1111/pde.15681. Epub 2024 Jul 4.
引用本文的文献
1
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.开发一种诊断性DNA芯片，用于筛查哈特派人群中的30种常染色体隐性疾病。
Mol Genet Genomic Med. 2016 Jan 19;4(3):312-21. doi: 10.1002/mgg3.206. eCollection 2016 May.
2
Novel mutations in LMNA A/C gene and associated phenotypes.LMNA A/C基因中的新型突变及相关表型。
Acta Myol. 2015 Dec;34(2-3):116-9.
3
An estimate of the average number of recessive lethal mutations carried by humans.对人类携带的隐性致死突变平均数量的估计。
Genetics. 2015 Apr;199(4):1243-54. doi: 10.1534/genetics.114.173351. Epub 2015 Feb 18.
4
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.患有限制性皮肤病或相关早老样综合征患者中的新型ZMPSTE24（FACE1）突变及突变更新
Eur J Hum Genet. 2014 Aug;22(8):1002-11. doi: 10.1038/ejhg.2013.258. Epub 2013 Oct 30.
5
A population-based study of autosomal-recessive disease-causing mutations in a founder population.基于人群的研究在一个创始人群体中常染色体隐性疾病致病突变。
Am J Hum Genet. 2012 Oct 5;91(4):608-20. doi: 10.1016/j.ajhg.2012.08.007. Epub 2012 Sep 13.
本文引用的文献
1
Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity.门诺派中的限制性皮肤病与ZMPSTE24突变：等位基因异质性的证据。
Am J Med Genet A. 2010 Aug;152A(8):2140-1; author reply 2142. doi: 10.1002/ajmg.a.33503.
2
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.父源 2 号染色体单亲二体导致长链 3-羟酰基辅酶 A 脱氢酶（LCHAD）缺乏症。
Am J Med Genet A. 2010 Jul;152A(7):1808-11. doi: 10.1002/ajmg.a.33462.
3
Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption.一名患有限制性皮肤病和胎盘早剥的门诺派婴儿中ZMPSTE24基因常见突变c.1085dupT的纯合性。
Am J Med Genet A. 2010 Jan;152A(1):262-3. doi: 10.1002/ajmg.a.33163.
4
Restrictive dermopathy--a lethal congenital laminopathy. Case report and review of the literature.限制性皮病——一种致死性先天性核纤层蛋白病。病例报告及文献综述。
Eur J Pediatr. 2009 Aug;168(8):1007-12. doi: 10.1007/s00431-008-0868-x. Epub 2008 Nov 20.
5
Clinical genetics and the Hutterite population: a review of Mendelian disorders.临床遗传学与哈特派人群：孟德尔疾病综述
Am J Med Genet A. 2008 Apr 15;146A(8):1088-98. doi: 10.1002/ajmg.a.32245.
6
Unique disease heritage of the Dutch-German Mennonite population.荷兰-德国门诺派人群独特的疾病遗传特征。
Am J Med Genet A. 2008 Apr 15;146A(8):1072-87. doi: 10.1002/ajmg.a.32061.
7
Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.ZMPSTE24基因的纯合突变和复合杂合突变会导致层粘连蛋白病——限制性皮肤病。
J Invest Dermatol. 2005 Nov;125(5):913-9. doi: 10.1111/j.0022-202X.2005.23846.x.
8
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.ZMPSTE24（FACE-1）缺失会导致常染色体隐性遗传性限制性皮病以及核纤层蛋白A前体的积累。
Hum Mol Genet. 2005 Jun 1;14(11):1503-13. doi: 10.1093/hmg/ddi159. Epub 2005 Apr 20.
9
Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania.宾夕法尼亚州东南部旧秩序门诺派的遗传谱系。
Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):18-31. doi: 10.1002/ajmg.c.20003.
10
Restrictive dermopathy.限制性皮肤病变
Pediatr Radiol. 1993;23(8):617-9. doi: 10.1007/BF02014983.
Zotero 插件