ArticleJournal of medical genetics1996
Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.
Article in Journal of medical genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
9 citing papers in PubMed, 27 citations in OpenAlex.
- Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.American journal of medical genetics. Part A · 2018Article
- Review
- Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain.Molecular syndromology · 2016Article
- Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.American journal of medical genetics. Part A · 2013Article
- Dilatation of the great arteries in an infant with marfan syndrome and ventricular septal defect.Case reports in medicine · 2011Article
- Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.European journal of human genetics : EJHG · 2009Article
- Periostin regulates collagen fibrillogenesis and the biomechanical properties of connective tissues.Journal of cellular biochemistry · 2007Article
- A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect.Journal of medical genetics · 2006Article
- 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
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
It is now well established that defects in fibrillin-1 (FBN1) cause the variable and pleiotropic features of Marfan syndrome (MFS) and, at the most severe end of its clinical spectrum, neonatal Marfan syndrome (nMFS). Patients with nMFS have mitral and tricuspid valve involvement and aortic root dilatation, and die of congestive heart failure, often in the first year of life. Although mutations in classical MFS have been observed along the entire length of the FBN1 mRNA, mutations in nMFS appear to cluster in a relatively small region of FBN1, approximately between exons 24 and 34. Here we describe the appearance of two FBN1 mutations in a single allele of an infant with nMFS. The changes were within six bases of each other in exon 26. One was a T3212G transversion resulting in an I1071S amino acid substitution and the second was an A3219T transversion resulting in an E1073D amino acid substitution. This is the first reported double mutant allele in FBN1.
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