| Literature DB >> 14595441 |
Koki Yamada1, Caroline Andrews, Wai-Man Chan, Craig A McKeown, Adriano Magli, Teresa de Berardinis, Anat Loewenstein, Moshe Lazar, Michael O'Keefe, Robert Letson, Arnold London, Mark Ruttum, Naomichi Matsumoto, Nakamichi Saito, Lisa Morris, Monte Del Monte, Roger H Johnson, Eiichiro Uyama, Willem A Houtman, Berendina de Vries, Thomas J Carlow, Blaine L Hart, Nicolas Krawiecki, John Shoffner, Marlene C Vogel, James Katowitz, Scott M Goldstein, Alex V Levin, Emin C Sener, Banu T Ozturk, A Nurten Akarsu, Michael C Brodsky, Frank Hanisch, Robert P Cruse, Alina A Zubcov, Richard M Robb, Peter Roggenkäemper, Irene Gottlob, Lionel Kowal, Ravi Battu, Elias I Traboulsi, Piergiorgio Franceschini, Anna Newlin, Joseph L Demer, Elizabeth C Engle.
Abstract
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.Entities:
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Year: 2003 PMID： 14595441 DOI： 10.1038/ng1261
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330