Genetic linkage of the marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5

Petros Tsipouras, Richard Del Mastro, Mansoor Sarfarazi, Brendan Lee, Emilia Vitale, Anne H. Child, Maurice Godfrey, Richard B. Devereux, Duncan Hewett, Maurice Godfrey, Denis Viljoen, Bryan C. Sykes, Michael Kilpatrick, Francesco Ramirez, Peter A. Farndon, Maureen Boxer, David J H Brock, Caroline Hayward, Marion Keston, Dianna M. MilewiczPeter H. Byers, Andrea Superti-Furga, Rajkumar S. Ramesar, Margaret Anne Davee, David D. Weaver, Stephen Wainer, Randi Kramer-Fox

Research output: Contribution to journalArticle

214 Citations (Scopus)

Abstract

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.).

Original languageEnglish (US)
Pages (from-to)905-909
Number of pages5
JournalNew England Journal of Medicine
Volume326
Issue number14
DOIs
StatePublished - Apr 2 1992

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Ectopia Lentis
Chromosomes, Human, Pair 15
Marfan Syndrome
Chromosomes, Human, Pair 5
Genetic Linkage
Genes
Mitral Valve Prolapse
Congenital contractural arachnodactyly
Fibrillins
Lod Score
Microfibrils
Elastin
Glycoproteins

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Genetic linkage of the marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. / Tsipouras, Petros; Del Mastro, Richard; Sarfarazi, Mansoor; Lee, Brendan; Vitale, Emilia; Child, Anne H.; Godfrey, Maurice; Devereux, Richard B.; Hewett, Duncan; Godfrey, Maurice; Viljoen, Denis; Sykes, Bryan C.; Kilpatrick, Michael; Ramirez, Francesco; Farndon, Peter A.; Boxer, Maureen; Brock, David J H; Hayward, Caroline; Keston, Marion; Milewicz, Dianna M.; Byers, Peter H.; Superti-Furga, Andrea; Ramesar, Rajkumar S.; Davee, Margaret Anne; Weaver, David D.; Wainer, Stephen; Kramer-Fox, Randi.

In: New England Journal of Medicine, Vol. 326, No. 14, 02.04.1992, p. 905-909.

Research output: Contribution to journalArticle

Tsipouras, P, Del Mastro, R, Sarfarazi, M, Lee, B, Vitale, E, Child, AH, Godfrey, M, Devereux, RB, Hewett, D, Godfrey, M, Viljoen, D, Sykes, BC, Kilpatrick, M, Ramirez, F, Farndon, PA, Boxer, M, Brock, DJH, Hayward, C, Keston, M, Milewicz, DM, Byers, PH, Superti-Furga, A, Ramesar, RS, Davee, MA, Weaver, DD, Wainer, S & Kramer-Fox, R 1992, '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, vol. 326, no. 14, pp. 905-909. https://doi.org/10.1056/NEJM199204023261401
Tsipouras, Petros ; Del Mastro, Richard ; Sarfarazi, Mansoor ; Lee, Brendan ; Vitale, Emilia ; Child, Anne H. ; Godfrey, Maurice ; Devereux, Richard B. ; Hewett, Duncan ; Godfrey, Maurice ; Viljoen, Denis ; Sykes, Bryan C. ; Kilpatrick, Michael ; Ramirez, Francesco ; Farndon, Peter A. ; Boxer, Maureen ; Brock, David J H ; Hayward, Caroline ; Keston, Marion ; Milewicz, Dianna M. ; Byers, Peter H. ; Superti-Furga, Andrea ; Ramesar, Rajkumar S. ; Davee, Margaret Anne ; Weaver, David D. ; Wainer, Stephen ; Kramer-Fox, Randi. / Genetic linkage of the marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. In: New England Journal of Medicine. 1992 ; Vol. 326, No. 14. pp. 905-909.
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AU - Tsipouras, Petros

AU - Del Mastro, Richard

AU - Sarfarazi, Mansoor

AU - Lee, Brendan

AU - Vitale, Emilia

AU - Child, Anne H.

AU - Godfrey, Maurice

AU - Devereux, Richard B.

AU - Hewett, Duncan

AU - Godfrey, Maurice

AU - Viljoen, Denis

AU - Sykes, Bryan C.

AU - Kilpatrick, Michael

AU - Ramirez, Francesco

AU - Farndon, Peter A.

AU - Boxer, Maureen

AU - Brock, David J H

AU - Hayward, Caroline

AU - Keston, Marion

AU - Milewicz, Dianna M.

AU - Byers, Peter H.

AU - Superti-Furga, Andrea

AU - Ramesar, Rajkumar S.

AU - Davee, Margaret Anne

AU - Weaver, David D.

AU - Wainer, Stephen

AU - Kramer-Fox, Randi

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N2 - 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.).

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