Abstract
We report two families in which the probands have compound-heterozygous Marfan syndrome (MFS). The proband of family I 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. (C) 2008 Elsevier Masson SAS. All rights reserved
Original language | English |
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Pages (from-to) | 1-5 |
Journal | European journal of medical genetics |
Volume | 52 |
Issue number | 1 |
DOIs | |
Publication status | Published - 2009 |