title: Acute myocardial infarction and a new ABCC6 mutation in a 16-year-old boy with pseudoxanthoma elasticum.
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.
authors.forename: Beata
authors.initials: B
authors.lastname: Kieć-Wilk
authors.forename: Andrzej
authors.initials: A
authors.lastname: Surdacki
authors.forename: Aldona
authors.initials: A
authors.lastname: Dembińska-Kieć
authors.forename: Joanna
authors.initials: J
authors.lastname: Michalowska
authors.forename: Maria
authors.initials: M
authors.lastname: Stachura-Dereń
authors.forename: Jacek S
authors.initials: JS
authors.lastname: Dubiel
authors.forename: Dariusz
authors.initials: D
authors.lastname: Dudek
authors.forename: Tomasz
authors.initials: T
authors.lastname: Rakowski
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Szastak
authors.forename: Marek
authors.initials: M
authors.lastname: Bodzioch
authors.forename: Charalampos
authors.initials: C
authors.lastname: Aslanidis
authors.forename: Gerd
authors.initials: G
authors.lastname: Schmitz
mesh_terms: D000293:Adolescent; D006801:Humans; D008297:Male; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics*; D009154:Mutation; D009203:Myocardial Infarction / Q000209:etiology*; D011561:Pseudoxanthoma Elasticum / Q000150:complications* / Q000235:genetics*
chemical_list: D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human