[Genetic aspects of Marfan syndrome].
Pathological changes of skeleton, circulatory system and eye--typical for Marfan syndrome--were described in the article. Collagen abnormalities were discussed as well as contemporary knowledge concerning the inheritance of the syndrome. Special attention was paid to the gene FBN1 localized on chromosome 15 and its influence on fibrilline 1 synthesis. Another gene responsible for abnormality of fibrilline 2 is FBN2 localized on chromosome 5. The mutations (over 140) of above mentioned genes were shortly described.
Rokicka
Anna
A
Zakładu Genetyki Medycznej oraz z Katedry i Kliniki Kardiologii Dzieciecej Slaskiej Akademii Medycznej w Katowicach.
Rokicki
Władysław
W
Lisik
Małgorzata
M
D002884:Chromosomes, Human, Pair 15; D002895:Chromosomes, Human, Pair 5; D000071838:Fibrillin-1; D000071840:Fibrillin-2; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000096:biosynthesis / Q000235:genetics; D009154:Mutation; D054392:Adipokines
D000071838:Fibrillin-1; D000071840:Fibrillin-2; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines; C000605723:FBN2 protein, human