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: C Hayward, M E Porteous, D J Brock
• Journal: Molecular and cellular probes (Mol Cell Probes) Vol. 8 Issue 4 Pg. 325-7 (Aug 1994) ISSN: 0890-8508 [Print] England
• PMID: 7870075 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• FBN1 protein, human
• Fibrillin-1
• Fibrillins
• Microfilament Proteins
• DNA

Topics

• Adult
• Base Sequence
• DNA (genetics)
• Exons
• Female
• Fibrillin-1
• Fibrillins
• Humans
• Marfan Syndrome (genetics, pathology)
• Microfilament Proteins (genetics)
• Middle Aged
• Molecular Sequence Data
• Point Mutation
• Polymerase Chain Reaction