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Article

Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome.

Human genetics - 1 Aug 2007

Mátyás Gábor, Alonso Sira, Patrignani Andrea, Marti Myriam, Arnold Eliane, Magyar István, Henggeler Caroline, Carrel Thierry, Steinmann Beat, Berger Wolfgang

Abstract excerpt

Mutations in the FBN1 gene are the major cause of Marfan syndrome (MFS), an autosomal dominant connective tissue disorder, which displays variable manifestations in the cardiovascular, ocular, and skeletal systems. Current molecular genetic testing of FBN1 may miss mutations in the promoter region or in other noncoding sequences as well as partial or complete gene deletions and duplications. In this study, we...

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Identifiers

PMID: 17492313
DOI: 10.1007/s00439-007-0371-x

Genes

FBN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome.PMID 17492313Read ↗

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Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome.Semantic proximity Read ↗

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Multi-exon deletions of the FBN1gene in Marfan syndromeSemantic proximity Read ↗

AnFBN1Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?Semantic proximity Read ↗

Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.Semantic proximity Read ↗

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.Semantic proximity Read ↗

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