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The Marfan Syndrome Is Caused by a Point Mutation in the Fibrillin Gene

The Marfan Syndrome Is Caused by a Point Mutation in the Fibrillin Gene Abstract In 1896, Marfan1 described the syndrome that would come to bear his name in a 5½-year-old girl with severe connective tissue disease. Her condition was not unlike that seen in two young girls whose identical mutations of the fibrillin type 1 gene were recently described by Dietz et al.2 In these two unrelated, sporadic cases of the Marfan syndrome, the diagnosis was suspected at birth because of severe arachnodactyly, lack of subcutaneous fat, and typical facial appearance. The patients were first seen at ages 4 and 2½ years for an ocular evaluation, and both had microspherophakia with marked iridodonesis, but the lenses were in the pupillary axis. Both girls had myopia ( − 31.00 OD and −30.00 OS in one, and − 18.00 OD and −16.50 OS in the other). Axial length measurements were 26.4 mm OD and 26.4 mm OS, and 23.9 mm OD and 23.2 mm OS References 1. Marfan M. Un cas de déformation congénitale des quatre membres plus prononcée aux extrémités charactérisée par l'allongement des os avec un certain degré d'amincissement . Bull Mem Soc Med Hop Paris . 1896;13:220-226. 2. Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene . Nature . 1991;352:337-339.Crossref 3. Sakai LY, Keene DR, Engvall E. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils . J Cell Biol . 1986;103:2499-2509.Crossref 4. Hollister DW, Godfrey M, Sakai LY, Pyeritz RE. Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome . N Engl J Med . 1990;323:152-159.Crossref 5. Kainulainen K, Pulkkinen L, Savolainen A, Kaitila I, Peltonen L. Location on chromosome 15 of the gene defect causing Marfan syndrome . N Engl J Med . 1990;323:935-939Crossref 6. Dietz HC, Pyeritz RE, Hall BD, et al. The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3 . Genomics . 1991;9:335-361.Crossref 7. Maslen CL, Corson GM, Maddox BK, Glanville RW, Sakai LY. Partial sequence of a candidate gene for the Marfan syndrome . Nature . 1991;352:334-337.Crossref 8. Lee B, Godrey M, Vitale E, et al. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes . Nature . 1991;352:330-334.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

The Marfan Syndrome Is Caused by a Point Mutation in the Fibrillin Gene

Archives of Ophthalmology , Volume 110 (4) – Apr 1, 1992

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Publisher
American Medical Association
Copyright
Copyright © 1992 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1992.01080160050027
Publisher site
See Article on Publisher Site

Abstract

Abstract In 1896, Marfan1 described the syndrome that would come to bear his name in a 5½-year-old girl with severe connective tissue disease. Her condition was not unlike that seen in two young girls whose identical mutations of the fibrillin type 1 gene were recently described by Dietz et al.2 In these two unrelated, sporadic cases of the Marfan syndrome, the diagnosis was suspected at birth because of severe arachnodactyly, lack of subcutaneous fat, and typical facial appearance. The patients were first seen at ages 4 and 2½ years for an ocular evaluation, and both had microspherophakia with marked iridodonesis, but the lenses were in the pupillary axis. Both girls had myopia ( − 31.00 OD and −30.00 OS in one, and − 18.00 OD and −16.50 OS in the other). Axial length measurements were 26.4 mm OD and 26.4 mm OS, and 23.9 mm OD and 23.2 mm OS References 1. Marfan M. Un cas de déformation congénitale des quatre membres plus prononcée aux extrémités charactérisée par l'allongement des os avec un certain degré d'amincissement . Bull Mem Soc Med Hop Paris . 1896;13:220-226. 2. Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene . Nature . 1991;352:337-339.Crossref 3. Sakai LY, Keene DR, Engvall E. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils . J Cell Biol . 1986;103:2499-2509.Crossref 4. Hollister DW, Godfrey M, Sakai LY, Pyeritz RE. Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome . N Engl J Med . 1990;323:152-159.Crossref 5. Kainulainen K, Pulkkinen L, Savolainen A, Kaitila I, Peltonen L. Location on chromosome 15 of the gene defect causing Marfan syndrome . N Engl J Med . 1990;323:935-939Crossref 6. Dietz HC, Pyeritz RE, Hall BD, et al. The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3 . Genomics . 1991;9:335-361.Crossref 7. Maslen CL, Corson GM, Maddox BK, Glanville RW, Sakai LY. Partial sequence of a candidate gene for the Marfan syndrome . Nature . 1991;352:334-337.Crossref 8. Lee B, Godrey M, Vitale E, et al. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes . Nature . 1991;352:330-334.Crossref

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Apr 1, 1992

References