A VARIANT OF FREEMAN-SHELDON SYNDROME MAPS TO 11P15.5-PTER

Distal arthrogryposis type 1 (DA1) and Freeman-Sheldon syndrome (FSS) are the two most common known causes of inherited multiple congenital contractures. We recently have characterized a new disorder (DA2B) wit h a phenotype intermediate between DA1 and FSS. We report the mapping of a gene that causes DA2B to chromosome 11p15.5-pter. Linkage analysi s in a single kindred generated a positive LOD score of 5.31 at theta = 0 with the marker D11S922, and recombinants localize the gene to an similar to 3.5-6.5-cM region between the marker TH and the telomere. A nalysis of additional families improves the LOD score to 6.45 at theta = 0 and suggests linkage homogeneity for DA2B.