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...

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Bibliographic Details
Published inMolecular and cellular probes Vol. 8; no. 4; pp. 325 - 327
Main Authors Hayward, Caroline, Porteous, Mary E.M., Brock, David J.H.
Format Journal Article
LanguageEnglish
Published England Elsevier Ltd 01.08.1994
Subjects
Adult
Base Sequence
DNA - genetics
Exons
Female
Fibrillin-1
Fibrillins
Humans
Marfan Syndrome - genetics
Marfan Syndrome - pathology
marfanoid, fibrillin mutation, arachnodactyly, exon 28
Microfilament Proteins - genetics
Middle Aged
Molecular Sequence Data
Point Mutation
Polymerase Chain Reaction
marfanoid, fibrillin mutation, arachnodactyly, exon 28
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Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0890-8508
1096-1194
DOI:10.1006/mcpr.1994.1045