Compound-heterozygous Marfan syndrome.
until further notice
SourceEuropean Journal of Medical Genetics, 52, 1, (2009), pp. 1-5
Article / Letter to editor
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Radboud University Nijmegen Medical Centre
European Journal of Medical Genetics
SubjectNCEBP 14: Cardiovascular diseases
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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