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. 1994 Nov;8(3):264-8.
doi: 10.1038/ng1194-264.

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

G Collod  1 , M C Babron, G Jondeau, M Coulon, J Weissenbach, O Dubourg, J P Bourdarias, C Bonaïti-Pellié, C Junien, C Boileau
Affiliations

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

G Collod et al. Nat Genet. 1994 Nov.

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 (theta = 0.05). By LINKMAP analyses, the most probable position for the second locus in MFS was at D3S2335.

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Figures

Figure 1
Figure 1
The relative physical locations of the disease gene on the short arm of chromosome 3 and of 13 regional markers.
Figure 2
Figure 2
Segregation of chromosome 3p24.2–p25 markers in the Marfan kindred. (Note that panel A and panel B represent different parts of a single pedigree; i.e., panel B is the rightward extension of panel A). Haplotypes (top to bottom) at tel-D3S1293, D3S1599, D3S2336, D3S2335, D3S2337, D3S1283 -cen markers are shown for each family member tested. Blackened symbols denote affected members, unblackened symbols denote unaffected spouses or unexamined family members, unblackened symbols with a dot in the center denote members considered unaffected, and hatched symbols denote members having an unknown phenotypic status. A slash denotes that the family member is deceased. An asterisk indicates the obligate recombinants with markers D3S1293 (subject IV55) and D3S1283 (subject IV54).
Figure 3
Figure 3
Graph of the multipoint lod scores versus map distance in centiMorgans from locus D3S1293. Composite lod score curve for which marker D3S1293 was chosen arbitrarily as origin for the map. Recombination fractions were converted into centiMorgans using Haldane map function.
See this image and copyright information in PMC

Comment in

  • The question of heterogeneity in Marfan syndrome.
    Dietz H, Francke U, Furthmayr H, Francomano C, De Paepe A, Devereux R, Ramirez F, Pyeritz R. Dietz H, et al. Nat Genet. 1995 Mar;9(3):228-31. doi: 10.1038/ng0395-228. Nat Genet. 1995. PMID: 7773282 No abstract available.

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