title: A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter.
abstract: 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.
authors.affiliation: Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84112, USA.
authors.forename: P A
authors.initials: PA
authors.lastname: Krakowiak
authors.forename: J R
authors.initials: JR
authors.lastname: O'Quinn
authors.forename: J F
authors.initials: JF
authors.lastname: Bohnsack
authors.forename: W S
authors.initials: WS
authors.lastname: Watkins
authors.forename: J C
authors.initials: JC
authors.lastname: Carey
authors.forename: L B
authors.initials: LB
authors.lastname: Jorde
authors.forename: M
authors.initials: M
authors.lastname: Bamshad
mesh_terms: 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