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  Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies

Robinson, P. N., Booms, P., Katzke, S., Ladewig, M., Neumann, L. M., Palz, M., et al. (2002). Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Human Mutation, 20(3), 153-161.

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 Creators:
Robinson, Peter N.1, Author           
Booms, Patrick, Author
Katzke, Stefanie, Author
Ladewig, Markus, Author
Neumann, Luitgard M., Author
Palz, Monika, Author
Pregla, Reinhard, Author
Tiecke, Frank, Author
Rosenberg, Thomas, Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: Marfan syndrome • MFS • nMFS • fibrillin-1 • FBN1 • microfibril • fibrillinopathy • mutation analysis • ectopia lentis
 Abstract: The Marfan syndrome (MFS) is a pleiotropic, autosomal dominant disorder of connective tissue with highly variable clinical manifestations including aortic dilatation and dissection, ectopia lentis, and a series of skeletal anomalies. Mutations in the gene for fibrillin-1 (FBN1) cause MFS, and at least 337 mainly unique mutations have been published to date. FBN1 mutations have been found not only in MFS but also in a range of connective tissue disorders collectively termed fibrillinopathies ranging from mild phenotypes, such as isolated ectopia lentis, to severe disorders including neonatal MFS, which generally leads to death within the first two years of life. The present article intends to provide an overview of mutations found in MFS and related disorders and to discuss potential genotype-phenotype correlations in MFS.

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Language(s): eng - English
 Dates: 2002-08-21
 Publication Status: Issued
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 25649
 Degree: -

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Title: Human Mutation
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 20 (3) Sequence Number: - Start / End Page: 153 - 161 Identifier: -