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

Department of Medicine (Genetics), Enders 5, Children's Hospital Boston, 300 Longwood Avenue, Boston, Massachusetts 02115, USA.
Nature Genetics (Impact Factor: 29.65). 01/2004; 35(4):318-21. DOI: 10.1038/ng1261
Source: PubMed

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.