Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)
- 2 November 2003
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 35 (4), 318-321
- https://doi.org/10.1038/ng1261
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.Keywords
This publication has 13 references indexed in Scilit:
- A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical regionNeuromuscular Disorders, 2003
- A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10)American Journal of Human Genetics, 2002
- Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locusHuman Genetics, 2002
- CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX.BMC Genomic Data, 2002
- All kinesin superfamily protein, KIF, genes in mouse and humanProceedings of the National Academy of Sciences, 2001
- Charcot-Marie-Tooth Disease Type 2A Caused by Mutation in a Microtubule Motor KIF1BβCell, 2001
- Evidence for the Involvement of Kif4 in the Anterograde Transport of L1-Containing VesiclesThe Journal of cell biology, 2000
- Novel Dendritic Kinesin Sorting Identified by Different Process Targeting of Two Related Kinesins: KIF21A and KIF21BThe Journal of cell biology, 1999
- Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular musclesAnnals of Neurology, 1997
- Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12Nature Genetics, 1994