Compound-heterozygous Marfan syndrome

F. S. van Dijk, B. C. Hamel, Y. Hilhorst-Hofstee, B. J. M. Mulder, J. Timmermans, G. Pals, J. M. Cobben

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25 Citations (Scopus)


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 languageEnglish
Pages (from-to)1-5
JournalEuropean journal of medical genetics
Issue number1
Publication statusPublished - 2009

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