Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.

Details

Serval ID
serval:BIB_72DCC2F48944
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.
Journal
American Journal of Human Genetics
Author(s)
Boyden E.D., Campos-Xavier A.B., Kalamajski S., Cameron T.L., Suarez P., Tanackovich G., Andria G., Ballhausen D., Briggs M.D., Hartley C., Cohn D.H., Davidson H.R., Hall C., Ikegawa S., Jouk P.S., König R., Megarbané A., Nishimura G., Lachman R.S., Mortier G., Rimoin D.L., Rogers R.C., Rossi M., Sawada H., Scott R., Unger S., Valadares E.R., Bateman J.F., Warman M.L., Superti-Furga A., Bonafé L.
ISSN
1537-6605 (Electronic)
ISSN-L
0002-9297
Publication state
Published
Issued date
2011
Volume
89
Number
6
Pages
767-772
Language
english
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov'tPublication Status: ppublish. Erratum in
Am J Hum Genet. 2012 Jan 13;90(1):170. Tanackovich, Goranka [corrected to Tanackovic, Goranka].
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.
Pubmed
Web of science
Open Access
Yes
Create date
30/01/2012 16:04
Last modification date
20/08/2019 15:31
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