ArticleAmerican journal of human genetics1994
A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.
Article in American journal of human genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 64 citations in OpenAlex.
- A novel large in-frameCold Spring Harbor molecular case studies · 2022Article
- Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.Scientific reports · 2021Article
- Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar.European journal of human genetics : EJHG · 2019Article
- Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.Molecular genetics & genomic medicine · 2019Article
- Novel FBN1 mutations are responsible for cardiovascular manifestations of Marfan syndrome.Molecular biology reports · 2016Article
- Review
- Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.European journal of human genetics : EJHG · 2015Article
- Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.Molecular vision · 2014Article
- The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.Human mutation · 2010Article
- Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.European journal of human genetics : EJHG · 2009Article
- Marfan syndrome and mitral valve prolapse.The Journal of clinical investigation · 2004Article
- Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature.European journal of pediatrics · 2004Article
- Marfan syndrome in the third Millennium.European journal of human genetics : EJHG · 2002Review
- The molecular genetics of Marfan syndrome and related microfibrillopathies.Journal of medical genetics · 2000Review
- Marfan Database (third edition): new mutations and new routines for the software.Nucleic acids research · 1998Article
- Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.Nucleic acids research · 1997Article
- Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.Journal of medical genetics · 1996Article
- Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.Journal of medical genetics · 1996Article
- Software and database for the analysis of mutations in the human FBN1 gene.Nucleic acids research · 1996Article
- Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.American journal of human genetics · 1995Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 mother was here shown to carry a heterozygous point mutation resulting in G2627R substitution, and the child had inherited both these mutations. The mutant FBN1 alleles were demonstrated to be transcribed with equal efficiency compared with the normal alleles, but metabolic labeling of fibroblast cultures from the child and both parents showed reduced biosynthesis and secretion of profibrillin. Also, the respective amounts of fibrillin in cell-culture media and extracellular-matrix extracts were markedly diminished, particularly in the cell cultures from father and child. In addition, immunofluorescence analysis of the cell cultures of all three family members revealed a drastically reduced amount of microfibrils, and virtually no visible fibrils could be seen in the case of the compound-heterozygote child. These findings demonstrate incomplete dominance of fibrillin mutations and underline the fatal consequences of the complete absence of normal fibrillin molecules in the microfibrils.
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7977366PMC1918427W61187599What OpenQuestion holds
Registered trials
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