Author/Authors :
Beata Kie?-Wilk، نويسنده , , Andrzej Surdacki، نويسنده , , Aldona Dembinska-Kiec، نويسنده , , Joanna Michalowska، نويسنده , , Maria Stachura-Dere?، نويسنده , , Jacek S. Dubiel، نويسنده , , Dariusz Dudek، نويسنده , , Tomasz Rakowski ، نويسنده , , Grzegorz Szastak، نويسنده , , Marek Bodzioch، نويسنده , , Charalampos Aslanidis، نويسنده , , Gerd Schmitz MD، نويسنده ,
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.
Keywords :
Pseudoxanthoma elasticum , ABCC6 gene , coronary artery disease , Acute myocardial infarction
