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Case Reports
. 2009 Jan-Feb;52(1):1-5.
doi: 10.1016/j.ejmg.2008.11.004. Epub 2008 Nov 27.

Compound-heterozygous Marfan syndrome

F S Van Dijk  1 , B C Hamel, Y Hilhorst-Hofstee, B J M Mulder, J Timmermans, G Pals, J M Cobben
Affiliations
Case Reports

Compound-heterozygous Marfan syndrome

F S Van Dijk et al. Eur J Med Genet. 2009 Jan-Feb.

Abstract

We report two families in which the probands have compound-heterozygous Marfan syndrome (MFS). The proband of family 1 has the R2726W FBN1 mutation associated with isolated skeletal features on one allele and a pathogenic FBN1 mutation on the other allele. The phenotype of the compound-heterozygous probands appears to be more severe than that of their heterozygous family members which underlines the possibility that certain trans-located FBN1 mutations might act as modifiers of phenotype explaining some of the intrafamilial variability in Marfan syndrome.

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