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Letter

Nature Genetics 38, 561–565 (1 May 2006) | doi:10.1038/ng1775

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

Reha M Toydemir , Ann Rutherford , Frank G Whitby , Lynn B Jorde , John C Carey & Michael J Bamshad

The genetic basis of most conditions characterized by congenital contractures is largely unknown. Here we show that mutations in the embryonic myosin heavy chain (MYH3) gene cause Freeman-Sheldon syndrome (FSS), one of the most severe multiple congenital contracture (that is, arthrogryposis) syndromes, and nearly one-third of all cases of Sheldon-Hall syndrome (SHS), the most common distal arthrogryposis.