Compound-heterozygous Marfan syndrome.
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.
Van Dijk
F S
FS
Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands. fs.vandijk2@vumc.nl
Hamel
B C
BC
Hilhorst-Hofstee
Y
Y
Mulder
B J M
BJ
Timmermans
J
J
Pals
G
G
Cobben
J M
JM
D000483:Alleles; D005192:Family Health; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006579:Heterozygote; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009139:Musculoskeletal Abnormalities / Q000235:genetics; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D055815:Young Adult; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines