Acute myocardial infarction and a new ABCC6 mutation in a 16-year-old boy with pseudoxanthoma elasticum.
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.
Kieć-Wilk
Beata
B
Surdacki
Andrzej
A
Dembińska-Kieć
Aldona
A
Michalowska
Joanna
J
Stachura-Dereń
Maria
M
Dubiel
Jacek S
JS
Dudek
Dariusz
D
Rakowski
Tomasz
T
Szastak
Grzegorz
G
Bodzioch
Marek
M
Aslanidis
Charalampos
C
Schmitz
Gerd
G
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*
D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human