Marfan Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Marfan Syndrome, including details on genetics, causes, symptoms, treatment.

Histopathology and fibrillin-1 distribution in severe early onset Marfan syndrome.

Summers KM, Nataatmadja M, Xu D, West MJ, McGill JJ, Whight C, Colley A, Adès LC

School of Molecular and Microbial Sciences, The University of Queensland, Queensland, Australia. K.Summers@uq.edu.au

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.

Published 26 October 2005 in Am J Med Genet A, 139(1): 2-8.
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