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Start Over Author "Bonafé L" Publisher elsevier bv
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5. Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity

Author

Sebastian Kalamajski, H. Rosemarie Davidson, A. Belinda Campos-Xavier, Eugênia Ribeiro Valadares, Goranka Tanackovich, Andrea Superti-Furga, Christine Hall, Daniel H. Cohn, Massimiliano Rossi, Generoso Andria, R. Curtis Rogers, Shiro Ikegawa, Diana Ballhausen, André Mégarbané, Michael D. Briggs, Sheila Unger, David L. Rimoin, Claire L. Hartley, Rainer König, Richard H Scott, Luisa Bonafé, Ralph S. Lachman, Eric D. Boyden, John F. Bateman, Pierre-Simon Jouk, Geert Mortier, Philippe Suarez, Trevor L. Cameron, Matthew L. Warman, Hirotake Sawada, Gen Nishimura, Boyden, Ed, Campos Xavier, Ab, Kalamajski, S, Cameron, Tl, Suarez, P, Tanackovic, G, Andria, Generoso, Ballhausen, D, Briggs, Md, Hartley, C, Cohn, Dh, Davidson, Hr, Hall, C, Ikegawa, S, Jouk, P, König, R, Megarbané, A, Nishimura, G, Lachman, R, Mortier, G, Rimoin, Dl, Rogers, Rc, Rossi, M, Sawada, H, Scott, R, Unger, S, Valadares, Er, Bateman, Jf, Warman, Ml, Superti Furga, A, Bonafé, L., and Tanackovich, G

Subjects
Male, Joint Dislocations, Gene Expression, Kinesins, Joint laxity, Motor domain, Mice, 0302 clinical medicine, Missense mutation, Exome, Genetics(clinical), Growth Plate, Child, Cells, Cultured, Genetics (clinical), Genes, Dominant, Genetics, 0303 health sciences, Chemistry, Joint Laxity, Monomeric Kinesin KIF22, Phenotype, Cell biology, DNA-Binding Proteins, Kinesin, Erratum, Joint Instability, Skeletal Dysplasia, Mutation, Missense, Biology, Osteochondrodysplasias, 03 medical and health sciences, Skeletal disorder, Report, medicine, Animals, Humans, Abnormalities, Multiple, Amino Acid Sequence, Genetic Association Studies, 030304 developmental biology, Spondyloepimetaphyseal dysplasia, Base Sequence, Tibia, Sequence Analysis, DNA, medicine.disease, Protein Structure, Tertiary, Dysplasia, Human medicine, 030217 neurology & neurosurgery
Abstract

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. The skeletal and connective tissue phenotype produced by these specific mutations point to functions of KIF22 beyond those previously ascribed functions involving chromosome segregation. Although we have found Kif22 to be strongly upregulated at the growth plate, the precise pathogenetic mechanisms remain to be elucidated.

Published
2011
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