Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

DOI HANDLE PDF Web Site PubMed 被引用文献18件

書誌事項

公開日
1991-07
権利情報
  • http://www.springer.com/tdm
DOI
  • 10.1038/352330a0
公開者
Springer Science and Business Media LLC

この論文をさがす

説明

Marfan syndrome (MFS), one of the most common genetic disorders of connective tissue, is characterized by skeletal, cardiovascular and ocular abnormalities. The incidence of the disease is about 1 in 20,000, with life expectancy severely reduced because of cardiovascular complications. As the underlying defect is unknown, MFS diagnosis is based solely on clinical criteria. Certain phenotypic features of MFS are also shared by other conditions, which may be genetically distinct entities although part of a clinical continuum. Immunohistochemical studies have implicated fibrillin, a major component of elastin-associated microfibrils, in MFS aetiology. Genetic linkage analysis with random probes has independently localized the MFS locus to chromosome 15. Here we report that these two experimental approaches converge with the cloning and mapping of the fibrillin gene to chromosome 15q15-21, and with the establishment of linkage to MFS. We also isolated a second fibrillin gene and mapped it to chromosome 5q23-31. We linked this novel gene to a condition, congenital contractural arachnodactyly, that shares some of the features of MFS. Thus, the cosegregation of two related genes with two related syndromes implies that fibrillin mutations are likely to be responsible for different MFS phenotypes.

収録刊行物

  • Nature

    Nature 352 (6333), 330-334, 1991-07

    Springer Science and Business Media LLC

被引用文献 (18)*注記

もっと見る

キーワード

詳細情報 詳細情報について

問題の指摘

ページトップへ