A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly

C Hayward; M E Porteous; D J Brock

doi:10.1006/mcpr.1994.1045

A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly

Mol Cell Probes. 1994 Aug;8(4):325-7. doi: 10.1006/mcpr.1994.1045.

Authors

C Hayward¹, M E Porteous, D J Brock

Affiliation

¹ Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.

PMID: 7870075
DOI: 10.1006/mcpr.1994.1045

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

FBN1 protein, human
Fibrillin-1
Fibrillins
Microfilament Proteins
DNA