We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
- Authors
Yamada, Koki; Andrews, Caroline; Chan, Wai-Man; McKeown, Craig A; Magli, Adriano; de Berardinis, Teresa; Loewenstein, Anat; Lazar, Moshe; O'Keefe, Michael; Letson, Robert; London, Arnold; Ruttum, Mark; Matsumoto, Naomichi; Saito, Nakamichi; Morris, Lisa; Del Monte, Monte; Johnson, Roger H; Uyama, Eiichiro; Houtman, Willem A; de Vries, Berendina; Carlow, Thomas J; Hart, Blaine L; Krawiecki, Nicolas; Shoffner, John; Vogel, Marlene C; Katowitz, James; Goldstein, Scott M; Levin, Alex V; Sener, Emin C; Ozturk, Banu T; Akarsu, A Nurten; Brodsky, Michael C; Hanisch, Frank; Cruse, Robert P; Zubcov, Alina A; Robb, Richard M; Roggenkäemper, Peter; Gottlob, Irene; Kowal, Lionel; Battu, Ravi; Traboulsi, Elias I; Franceschini, Piergiorgio; Newlin, Anna; Demer, Joseph L; Engle, Elizabeth C
- 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.
- Publication
Nature genetics, 2003, Vol 35, Issue 4, p318
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1261