Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Genetic linkage of the marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5
New England Journal of Medicine, Volume 326, No. 14, Year 1992
Notification
URL copied to clipboard!
Description
The large glycoprotein fibrillin is a structural component of elastin-containing microfibrils found in many tissues. The Marfan syndrome has been linked to the fibrillin gene on chromosome 15, but congenital contractural arachnodactyly, which shares some of the physical features of the syndrome, has been linked to the fibrillin gene on chromosome 5. Using specific markers for the fibrillin genes, we performed genetic linkage analysis in 28 families with the Marfan syndrome and 8 families with four phenotypically related disorders — congenital contractural arachnodactyly (3 families), ectopia lentis (2), mitral-valve prolapse syndrome (2), and annuloaortic ectasia (1). Genetic linkage was established between the Marfan syndrome and only the fibrillin gene on chromosome 15, with a maximum lod score of 25.6 (odds for linkage, 1025.6:1). Ectopia lentis was also linked to the fibrillin gene on chromosome 15, whereas congenital contractural arachnodactyly was linked to the fibrillin gene on chromosome 5. There was no linkage of mitral-valve prolapse to the fibrillin gene on chromosome 5; studies of chromosome 15 were not informative. Annuloaortic ectasia was not linked to either fibrillin gene. The Marfan syndrome appears to be caused by mutations in a single fibrillin gene on chromosome 15. Diagnosis of the Marfan syndrome by genetic linkage and analysis is now feasible in many families. (N Engl J Med 1992;326:905–9.). © 1992, Massachusetts Medical Society. All rights reserved.
Authors & Co-Authors
Tsipouras, Petros
United States, Farmington
Uconn Health
Del Mastro, Richard
United States, Farmington
Uconn Health
Sarfarazi, Mansoor
United States, Farmington
Uconn Health
Del Mastro, Richard
United Kingdom, Birmingham
University of Birmingham
Kilpatrick, Michael W.
United Kingdom, Birmingham
University of Birmingham
Lee, Brendan H.L.
United States, New York
Icahn School of Medicine at Mount Sinai
Vitale, Emilia
United States, New York
Icahn School of Medicine at Mount Sinai
Ramirez, Francesco
United States, New York
Icahn School of Medicine at Mount Sinai
Child, Anne H.
United Kingdom, London
St George’s, University of London
Godfrey, Maurice
United States, Omaha
University of Nebraska Omaha
Devereux, Richard B.
United States, Ithaca
Cornell University
Hewett, Duncan
United Kingdom, Oxford
University of Oxford
Sykes, Bryan C.
United Kingdom, Oxford
University of Oxford
Steinmann, Beat U.
Switzerland, Zurich
Universität Zürich
Viljoen, Dennis Lucy
South Africa, Cape Town
University of Cape Town
Statistics
Citations: 231
Authors: 15
Affiliations: 9
Identifiers
Doi:
10.1056/NEJM199204023261401
ISSN:
00284793
e-ISSN:
15334406
Research Areas
Genetics And Genomics