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Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

Authors: Yamada, K  Andrews, C  Chan, WM  McKeown, CA  Magli, A  De Berardinis, T  Loewenstein, A  Lazar, M  O'Keefe, M  Letson, R  London, A  Ruttum, M  Matsumoto, N  Saito, N  Morris, L  Del Monte, M  Johnson, RH  Uyama, E  Houtman, WA  De Vries, B  Carlow, TJ  Hart, BL  Krawiecki, N  Shoffner, J  Vogel, MC  Katowitz, J  Goldstein, SM  Levin, AV  Sener, EC  Ozturk, BT  Akarsu, AN  Brodsky, MC  Hanisch, F  Cruse, RP  Zubcov, AA  Robb, RM  Roggenkaemper, P  Gottlob, I  Kowal, L  Battu, R  Traboulsi, EI  Franceschini, P  Newlin, A  Demer, JL  Engle, EC 
Citation: Yamada K, etal., Nat Genet. 2003 Dec;35(4):318-21. Epub 2003 Nov 2.
Pubmed: (View Article at PubMed) PMID:14595441
DOI: Full-text: DOI:10.1038/ng1261

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.


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CRRD Object Information
CRRD ID: 1600402
Created: 2007-03-07
Species: All species
Last Modified: 2007-03-07
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.