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

Gwenaelle Collod (1) , Marie-Claude Babron (2) , Guillaume Jondeau (3) , Monique Coulon (1) , Jean Weissenbach (4) , Olivier Dubourg (5) , Jean-Pierre Bourdarias (6) , Catherine Bonaïti-Pellié (7) , Claudine Junien (1) , Catherine Boileau (1)

1 Génétique, chromosome et cancer
2 U946 - Variabilité Génétique et Maladies Humaines
3 Consultation Marfan
4 IG - Institut de Génomique d'Evry
5 UVSQ - Université de Versailles Saint-Quentin-en-Yvelines
6 Service de cardiologie et maladies vasculaires [CHU Ambroise Paré]
7 Inserm U535 - Génétique épidémiologique et structures des populations humaines

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.

Domaines: Biologie moléculaire; Génétique humaine

Gwenaelle Collod, Marie-Claude Babron, Guillaume Jondeau, Monique Coulon, Jean Weissenbach, et al.. A second locus for Marfan syndrome maps to chromosome 3p24.2–p25. Nature Genetics, 1994, 8 (3), pp.264-268. ⟨10.1038/ng1194-264⟩. ⟨hal-01662693⟩