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) with a phenotype intermediate between DA1 and FSS. We report the mapping of a gene that causes DA2B to chromosome 11p15.5-pter. Linkage analysis 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 approximately 3.5-6.5-cM region between the marker TH and the telomere. Analysis of additional families improves the LOD score to 6.45 at theta = 0 and suggests linkage homogeneity for DA2B.
Krakowiak
P A
PA
Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84112, USA.
O'Quinn
J R
JR
Bohnsack
J F
JF
Watkins
W S
WS
Carey
J C
JC
Jorde
L B
LB
Bamshad
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D001176:Arthrogryposis / Q000235:genetics*; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D005260:Female; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic; D013577:Syndrome