Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus.

摘要

Genetic studies of families with rare forms of familial congenital incomitant strabismus (eg, congenital fibrosis of the extraocular muscles [CFEOM]) have led to identification of genes responsible for ocular cranial nerve development and to the unifying concept of "congenital cranial dysinnervation disorder (CCDD)" to describe such phenotypes. CFEOM1 (On-line Mendelian Inheritance in Man [MIM] #135700) is caused by heterozygous mutation in KIF21A (MIM *608283)/ which codes a developmental motor kinesin responsible for anterograde axonal transport of cargo along neurons such as that of the superior division of cranial nerve III.