ArticleJournal of medical genetics1996
Characterisation of four novel fibrillin-1 (FBN1) mutations in 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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Who cites it
9 citing papers in PubMed, 27 citations in OpenAlex.
- Thumb duplication: molecular analysis of different clinical types.European journal of orthopaedic surgery & traumatology : orthopedie traumatologie · 2019Article
- Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32.Heart and vessels · 2016Review
- Dural ectasia in Marfan syndrome: a case control study.AJNR. American journal of neuroradiology · 2009Article
- 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
- The latent transforming growth factor beta binding protein (LTBP) family.The Biochemical journal · 2000Review
- Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.American journal of human genetics · 1999Article
- Marfan Database (third edition): new mutations and new routines for the software.Nucleic acids research · 1998Article
- Solution structure of the transforming growth factor beta-binding protein-like module, a domain associated with matrix fibrils.The EMBO journal · 1997Article
- Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.Nucleic acids research · 1997Article
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Authors and funding
4 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Forty-four percent of the fibrillin-1 gene (FBN1) from 19 unrelated families with Marfan syndrome was screened for putative mutations by single strand conformational polymorphism (SSCP) analysis. Four novel mutations were identified and characterised in five people, three with classical Marfan syndrome (two from one family, and one from an unrelated family), one with a more severe phenotype, and one with neonatal Marfan syndrome. The base substitutions G2113A, G2132A, T3163G, and G3458A result in amino acid substitutions A705T, C711Y, C1055G, and C1152Y, respectively. C711Y, C1055G, and C1152Y lead to replacement of a cysteine by another amino acid; the latter two occur within epidermal growth factor-like motifs in exon 25 and 27, respectively. The A705T mutation occurs at exon 16 adjacent to the GT splice site. The A705T and C711Y mutations, at exon 16 and 17, respectively, are the first documented in the second transforming growth factor-beta 1 binding protein-like motif of FBN1.
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