ArticleThe Journal of clinical investigation1994
An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome.
Article in The Journal of clinical investigation, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 38 citations in OpenAlex.
- Clinical and genetic findings in Chinese families with congenital ectopia lentis.Molecular genetics & genomic medicine · 2023Article
- Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.Molecular vision · 2008Article
- The molecular genetics of Marfan syndrome and related disorders.Journal of medical genetics · 2006Review
- Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.The British journal of ophthalmology · 2002Article
- 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
- 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
- A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.The Journal of clinical investigation · 1995Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We present here a family with a clinical phenotype resembling Marfan syndrome (MFS), and displaying joint contracture and episodes of knee joint effusions, but lacking the cardiovascular features of the syndrome. The phenotype of this family represents a unique mixture of connective tissue symptoms, some of which are found in classical MFS and some of which are typical of dominant ectopia lentis. Linkage analyses suggested a linkage (LOD score 2.4; theta = 0) between the phenotype of the family and a polymorphic marker in the vicinity of the fibrillin locus on chromosome 15 (FBN1). Furthermore, a novel transition mutation was identified in the FBN1 gene in all the affected members of the family. In contrast to the majority of fibrillin mutations reported so far, this mutation substitutes a cysteine for arginine, producing an extra cysteine in one of the non-calcium-binding EGF-like motifs of the fibrillin polypeptide, most probably disturbing the formation of one of the three disulfide bridges known to be essential for the normal conformation of this motif.
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