title: A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
abstract: 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.
authors.affiliation: Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.
authors.forename: C
authors.initials: C
authors.lastname: Hayward
authors.forename: M E
authors.initials: ME
authors.lastname: Porteous
authors.forename: D J
authors.initials: DJ
authors.lastname: Brock
mesh_terms: 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
chemical_list: D004247:DNA; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines