Literature DB >> 16854481

Acute myocardial infarction and a new ABCC6 mutation in a 16-year-old boy with pseudoxanthoma elasticum.

Beata Kieć-Wilk, Andrzej Surdacki, Aldona Dembińska-Kieć, Joanna Michalowska, Maria Stachura-Dereń, Jacek S Dubiel, Dariusz Dudek, Tomasz Rakowski, Grzegorz Szastak, Marek Bodzioch, Charalampos Aslanidis, Gerd Schmitz.   

Abstract

Pseudoxanthoma elasticum is caused by mutations of the ABCC6 gene. We hereby report a case of pseudoxanthoma elasticum with clinical features dominated by early coronary involvement in addition to typical skin and ocular abnormalities. A 16-year-old survivor of acute myocardial infarction with 3-vessel coronary artery disease exhibited compound heterozygosity for the well-known nonsense mutation (c.3421C>T; R1141X) in exon 24 and a novel missense mutation (c.3662G>A; R1221H) in exon 26 of the ABCC6 gene.

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Year:  2006        PMID： 16854481     DOI： 10.1016/j.ijcard.2006.02.022

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN： 0167-5273            Impact factor:   4.164


  7 in total

1.  Mutation analysis (ABCC6) in a family with pseudoxanthoma elasticum: presymptomatic testing with prognostic implications.

Authors:  Q Li; L Török; L Kocsis; J Uitto
Journal:  Br J Dermatol       Date:  2010-05-11       Impact factor: 9.302

2.  ABCC6 Out From the Cold: Identification of the ABCC6 Substrate as a Therapy for Pseudoxanthoma Elasticum and Cardiovascular Disease.

Authors:  Eugenia T Prescott; Imran N Mungrue
Journal:  Austin J Pharmacol Ther       Date:  2014-08-04

3.  Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.

Authors:  Ellen G Pfendner; Olivier M Vanakker; Sharon F Terry; Sophia Vourthis; Patricia E McAndrew; Monica R McClain; Sarah Fratta; Anna-Susan Marais; Susan Hariri; Paul J Coucke; Michele Ramsay; Denis Viljoen; Patrick F Terry; Anne De Paepe; Jouni Uitto; Lionel G Bercovitch
Journal:  J Med Genet       Date:  2007-07-06       Impact factor: 6.318

4.  ABCC6 deficiency promotes dyslipidemia and atherosclerosis.

Authors:  Christopher Brampton; Viola Pomozi; Li-Hsieh Chen; Ailea Apana; Sara McCurdy; Janna Zoll; William A Boisvert; Gilles Lambert; Daniel Henrion; Simon Blanchard; Sheree Kuo; Georges Leftheriotis; Ludovic Martin; Olivier Le Saux
Journal:  Sci Rep       Date:  2021-02-16       Impact factor: 4.379

5.  Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients: a national registry study.

Authors:  Saku Pelttari; Suvi Väärämäki; Olivier Vanakker; Shana Verschuere; Hannu Uusitalo; Heini Huhtala; Tero Hinkka; Ilkka Pörsti; Pasi I Nevalainen
Journal:  Orphanet J Rare Dis       Date:  2022-05-07       Impact factor: 4.123

6.  ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.

Authors:  Astrid S Plomp; Ralph J Florijn; Jacoline Ten Brink; Bruce Castle; Helen Kingston; Ana Martín-Santiago; Theo G M F Gorgels; Paulus T V M de Jong; Arthur A B Bergen
Journal:  Mol Vis       Date:  2008-01-24       Impact factor: 2.367

7.  Integrative computational and experimental approaches to establish a post-myocardial infarction knowledge map.

Authors:  Nguyen T Nguyen; Xiaolin Zhang; Cathy Wu; Richard A Lange; Robert J Chilton; Merry L Lindsey; Yu-Fang Jin
Journal:  PLoS Comput Biol       Date:  2014-03-20       Impact factor: 4.475
  7 in total

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