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Article

A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.

American journal of human genetics - 1 Dec 1994

Karttunen L, Raghunath M, Lönnqvist L, Peltonen L

Abstract excerpt

We describe here the identification of defined mutations in both alleles of the fibrillin gene (FBN1) in a compound-heterozygote Marfan syndrome (MFS) child who had a very severe form of MFS resulting in death from cardiac failure at the age of 4 mo. The nonconsanguineous parents were both affected with MFS. The father's heterozygous point mutation has earlier been reported to result in W217G substitution, the...

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Identifiers

PMID: 7977366
PMCID: PMC1918427

Genes

FBN1

Provenance

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.

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A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.PMID 7977366Read ↗

Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome.Semantic proximity Read ↗

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.Semantic proximity Read ↗

An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts.Semantic proximity Read ↗

Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms.Semantic proximity Read ↗

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome.Semantic proximity Read ↗

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

Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome.Semantic proximity Read ↗

Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype.Semantic proximity Read ↗

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