Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity
American Journal of Human Genetics, Volume 89, No. 6, Year 2011
Notification
URL copied to clipboard!
Description
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. © 2011 The American Society of Human Genetics.
Authors & Co-Authors
Boyden, Eric D.
United States, Chevy Chase
Howard Hughes Medical Institute
Campos-Xavier, Belinda A.
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Kalamajski, Sebastian
United States, Chevy Chase
Howard Hughes Medical Institute
Cameron, Trevor L.
Australia, Melbourne
Murdoch Children's Research Institute
Suarez, Philippe
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Tanackovich, Goranka
Switzerland, Lausanne
Université de Lausanne Unil
Andria, Generoso
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Ballhausen, Diana
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Briggs, Michael D.
United Kingdom, Manchester
Wellcome Trust Centre for Cell-matrix Research
Hartley, Claire
United Kingdom, Manchester
Wellcome Trust Centre for Cell-matrix Research
Cohn, Daniel H.
United States, Los Angeles
University of California, Los Angeles
Davidson, H. Rosemarie
United Kingdom, Glasgow
Royal Hospital for Sick Children
Hall, Christine
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Ikegawa, Shiro
Japan, Wako
Riken
Jouk, Pierre Simon
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Koenig, Rainer König
Germany, Frankfurt am Main
Universitätsklinikum Frankfurt
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Nishimura, Gen
Japan, Fuchu
Tokyo Metropolitan Children's Medical Center
Lachman, Ralph S.
United States, Los Angeles
Cedars-sinai Medical Center
Mortier, Geert R.
Belgium, Edegem
Universitair Ziekenhuis Antwerpen
Rimoin, David L.
United States, Los Angeles
Cedars-sinai Medical Center
United States, Los Angeles
David Geffen School of Medicine at Ucla
Rogers, R. Curtis
United States, Greenwood
Greenwood Genetics Center
Rossi, Massimiliano
Italy, Naples
Università Degli Studi Di Napoli Federico Ii
Sawada, Hirotake
Japan, Miyazaki
University of Miyazaki Faculty of Medicine
Scott, Richard H.
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Unger, Sheila L.
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Valadares, Eugenia Ribeiro
Brazil, Belo Horizonte
Universidade Federal de Minas Gerais
Bateman, John F.
Australia, Melbourne
Murdoch Children's Research Institute
Australia, Melbourne
University of Melbourne
Warman, Matthew L.
United States, Chevy Chase
Howard Hughes Medical Institute
Superti-Furga, Andrea
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Bonafé, Luisa
Switzerland, Lausanne
Centre Hospitalier Universitaire Vaudois
Statistics
Citations: 32
Authors: 31
Affiliations: 21
Identifiers
Doi:
10.1016/j.ajhg.2011.10.016
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Genetics And Genomics