期刊
NATURE GENETICS
卷 35, 期 4, 页码 318-321出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1261
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资金
- NEI NIH HHS [R01 EY008313] Funding Source: Medline
- NATIONAL EYE INSTITUTE [R01EY008313] Funding Source: NIH RePORTER
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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