AI Article Synopsis

  • Marfan syndrome (MFS) is a genetic connective tissue disorder with cardiovascular, ocular, and skeletal symptoms, caused primarily by mutations in the fibrillin-1 gene (FBN1).
  • Researchers identified four unique mutations in the fibrillin gene from a study with 44 MFS patients, including a 17 bp deletion and three missense mutations, indicating that these mutations can vary between individuals.
  • A larger screening of 65 MFS patients revealed that most families have unique mutations, suggesting that the fibrillin genotype alone does not fully explain the connective tissue manifestations seen in MFS.

Article Abstract

Marfan syndrome (MFS) is an autosomal dominantly inherited connective tissue disorder characterized by cardiovascular, ocular and skeletal manifestations. Previously, mutations in the fibrillin-1 gene on chromosome 15 (FBN1) have been reported to cause MFS. We have now screened 44 probands with MFS or related phenotypes for alterations in the entire fibrillin coding sequence (9.3 kb) by single strand conformation analysis. We report four unique mutations in the fibrillin gene of unrelated MFS patients. One is a 17 bp deletion and three are missense mutations, two of which involve 8-cysteine motifs. Another missense mutation was found in two unrelated individuals with annuloaortic ectasia but was also present in unaffected relatives and controls from various ethnic backgrounds. By using allele-specific oligonucleotide hybridization, we screened 65 unrelated MFS patients, 29 patients with related phenotypes and 84 control individuals for these mutations as well as for a previously reported mutation and two polymorphisms. Our results suggest that most MFS families carry unique mutations and that the fibrillin genotype is not the sole determinant of the connective tissue phenotype.

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Source
http://dx.doi.org/10.1093/hmg/2.11.1813DOI Listing

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