Eric D Boyden, A Belinda Campos-Xavier, Sebastian Kalamajski, Trevor L Cameron, Philippe Suarez, Goranka Tanackovic, Goranka Tanackovich, Generoso Andria, Diana Ballhausen, Michael D Briggs, Claire Hartley, Daniel H Cohn, H Rosemarie Davidson, Christine Hall, Shiro Ikegawa, Pierre-Simon Jouk, Rainer König, André Megarbané, Gen Nishimura, Ralph S Lachman, Geert Mortier, David L Rimoin, R Curtis Rogers, Massimiliano Rossi, Hirotake Sawada, Richard Scott, Sheila Unger, Eugenia Ribeiro Valadares, John F Bateman, Matthew L Warman, Andrea Superti-Furga, Luisa Bonafé
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (lepto-SEMDJL, aka SEMDJL, Hall type), is an autosomal dominant skeletal disorder that, in spite of being relatively common among skeletal dysplasias, has eluded molecular elucidation so far. We used whole-exome sequencing of five unrelated individuals with lepto-SEMDJL to identify mutations in KIF22 as the cause of this skeletal condition. Missense mutations affecting one of two adjacent amino acids in the motor domain of KIF22 were present in 20 familial cases from eight families and in 12 other sporadic cases...
December 9, 2011: American Journal of Human Genetics