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

Nature genetics | Dec 3, 2003

http://www.ncbi.nlm.nih.gov/pubmed/14595441

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.

Pubmed ID: 14595441 RIS Download

Mesh terms: Amino Acid Sequence | Child | Female | Fibrosis | Genetic Linkage | Genetic Variation | Heterozygote | Humans | Kinesin | Male | Molecular Sequence Data | Mutation | Nerve Tissue Proteins | Oculomotor Muscles | Ophthalmoplegia | Pedigree | Phenotype | Sequence Homology, Amino Acid

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Associated grants

  • Agency: NEI NIH HHS, Id: R01 EY008313

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