Abstract
Mutations in the kinesin motor KIF22 (Kid) dominantly cause the skeletal developmental disorder spondyloepimetaphyseal dysplasia with joint laxity-leptodactylic type (SEMDJL2). Published analyses of SEMDJL2 patients identified mutations in proline 148 and arginine 149 of the motor domain alpha-2 helix as causative of disease pathology. These were predicted to be loss of function mutations that inactivate KIF22. We report the identification of a patient with a point mutation in the coiled-coil rather than motor domain of KIF22 and are investigating whether pathogenic mutations R149Q (motor domain) and V475G (coiled-coil domain) affect the function of KIF22 in mitosis.
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