A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
Mutations of the fibrillin gene (FBN1) are known to cause classical Marfan's syndrome, ectopia lentis and neonatal Marfan's syndrome. We have identified a novel missense mutation in exon 28 of the FBN1 gene (R1170H) which is responsible for an atypical marfanoid phenotype characterised by dolichostenomelia and arachnodactyly.
Hayward
C
C
Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.
Porteous
M E
ME
Brock
D J
DJ
D000328:Adult; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005091:Exons; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics* / Q000473:pathology; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D054392:Adipokines
D004247:DNA; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines