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A second locus for Marfan syndrome maps to chromosome 3p24.2–p25

Nature Genetics volume 8, pages 264–268 (1994)Cite this article

Abstract

Marfan syndrome (MFS) is an autosomal dominant connective-tissue disorder characterized by skeletal, ocular and cardiovascular defects of highly variable expressivity. The diagnosis relies solely on clinical criteria requiring anomalies in at least two systems. By excluding the chromosome 15 disease locus, fibrillin 1 (FBN1), in a large French family with typical cardiovascular and skeletal anomalies, we raised the issue of genetic heterogeneity in MFS and the implication of a second locus (MFS2). Linkage analyses, performed in this family, have localized MFS2 to a region of 9 centiMorgans between D3S1293 and D3S1283, at 3p24.2–p25. In this region, the highest lod score was found with D3S2336, of 4.89 (θ=0.05). By LINKMAP analyses, the most probable position for the second locus in MFS was at D3S2335.

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Authors and Affiliations

  1. INSERM U383, Hôpital Necker-Enfants Malades, Université René Descartes, Paris V, 149-161 rue de Sèvres, 75743, Paris Cedex, 15, France

    Gwenaëlle Collod, Monique Coulon, Claudine Junien & Catherine Boileau

  2. INSERM U155, Château de Longchamp, Carrefour de Longchamp, Bois de Boulogne, Paris, 75016, France

    Marie-Claude Babron & Catherine Bonaïti-Pellié

  3. Service de Cardiologie, CHU Ambroise Paré, 9 avenue Charles de Gaulle, Boulogne Cedex, 92104, France

    Guillaume Jondeau, Olivier Dubourg & Jean-Pierre Bourdarias

  4. Généthon, 1 rue de Internationale, 91002, Evry, France

    Jean Weissenbach

  5. Laboratoire Central de Biochimie et de Génétique Moléculaire, CHU Ambroise Paré, 9 avenue Charles de Gaulle, 92104, Boulogne Cedex, France

    Claudine Junien & Catherine Boileau

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  1. Gwenaëlle Collod
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Collod, G., Babron, MC., Jondeau, G. et al. A second locus for Marfan syndrome maps to chromosome 3p24.2–p25. Nat Genet 8, 264–268 (1994). https://doi.org/10.1038/ng1194-264

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