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. 1997 Feb;60(2):426–432.

A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter.

P A Krakowiak 1, J R O'Quinn 1, J F Bohnsack 1, W S Watkins 1, J C Carey 1, L B Jorde 1, M Bamshad 1
PMCID: PMC1712403  PMID: 9012416

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.

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Selected References

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