title: Histopathology and fibrillin-1 distribution in severe early onset Marfan syndrome.
abstract: Marfan syndrome (MFS) is an autosomal dominant condition which may involve the cardiovascular, ocular, skeletal, and other systems. Mutations causing MFS are found in the FBN1 gene, encoding fibrillin-1, an extracellular matrix protein involved in microfibril formation. In the most severe cases, mutations are generally found in exons 24-32, and children with these mutations usually die in the first years of life, of cardiopulmonary failure. We present clinical, molecular and histopathological studies on a patient with severe early onset MFS. He has a mutation in exon 25 of FBN1, a G>A transition at nucleotide position 3131 that converts the codon TGC, coding for cysteine at position 1044, to TAC, coding for tyrosine (C1044Y). This has resulted in abnormalities of the extracellular matrix and a severe clinical phenotype, although he has survived to the age of 14 years.
authors.affiliation: School of Molecular and Microbial Sciences, The University of Queensland, Queensland, Australia. K.Summers@uq.edu.au
authors.forename: K M
authors.initials: KM
authors.lastname: Summers
authors.forename: M
authors.initials: M
authors.lastname: Nataatmadja
authors.forename: D
authors.initials: D
authors.lastname: Xu
authors.forename: M J
authors.initials: MJ
authors.lastname: West
authors.forename: J J
authors.initials: JJ
authors.lastname: McGill
authors.forename: C
authors.initials: C
authors.lastname: Whight
authors.forename: A
authors.initials: A
authors.lastname: Colley
authors.forename: L C
authors.initials: LC
authors.lastname: Adès
mesh_terms: D000293:Adolescent; D001011:Aorta / Q000473:pathology; D002478:Cells, Cultured; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D008840:Microfilament Proteins / Q000235:genetics / Q000378:metabolism*; D009130:Muscle, Smooth / Q000473:pathology; D009154:Mutation; D012867:Skin / Q000473:pathology; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines