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

@article{Yamada2003HeterozygousMO,
  title={Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)},
  author={Koki Yamada and Caroline Andrews and W. Q. Chan and Craig A. McKeown and Adriano Magli and Teresa de Berardinis and Anat Loewenstein and Moshe Lazar and Michael O'Keefe and Robert D Letson and Arnold London and Mark S. Ruttum and Naomichi Matsumoto and Nakamichi Saito and Lisa Kaplan Morris and Monte Del Monte and Roger H. Johnson and Eiichiro Uyama and Willem A Houtman and Berendina de Vries and T. J. Carlow and Blaine L. Hart and Nicolas S Krawiecki and John Shoffner and Marlene Vogel and James A. Katowitz and Scott M Goldstein and Alex V Levin and Emin Cumhur Şener and Banu Turgut Ozturk and A Nurten Akarsu and Michael C. Brodsky and Frank Hanisch and Robert P. Cruse and Alina A. Zubcov and Richard M. Robb and Peter Roggenk{\"a}emper and Irene Gottlob and Lionel M Kowal and Ravi Battu and Elias I. Traboulsi and Piergiorgio Franceschini and Anna C. Newlin and Joseph L. Demer and Elizabeth C. Engle},
  journal={Nature Genetics},
  year={2003},
  volume={35},
  pages={318-321}
}
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… CONTINUE READING

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