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

Koki Yamada, 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 VriesThomas 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

Research output: Contribution to journalArticle

187 Scopus citations

Abstract

Congenital fibrosis of the extraocular muscles type 1 (CFFOM1; 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.

Original languageEnglish (US)
Pages (from-to)318-321
Number of pages4
JournalNature genetics
Volume35
Issue number4
DOIs
StatePublished - Dec 1 2003

ASJC Scopus subject areas

  • Genetics

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    Yamada, K., Andrews, C., Chan, W. M., McKeown, C. A., 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, R. H., Uyama, E., Houtman, W. A., ... Engle, E. C. (2003). Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nature genetics, 35(4), 318-321. https://doi.org/10.1038/ng1261