Congenital fibrosis of extra ocular muscles 1 is a syndrome of congenital nonprogressive bilateral ophthalmoplegia and ptosis, an infraducted primary position of each eye with the inability to raise either eye above the midline, and forced duction testing positive for restriction.

The gene, responsible for the disease CFEOM1 at the FEOM1 locus spans ~150 kb of genomic DNA, has an open reading frame of 5022 bp and consists of 38 exons with alternative splicing of exon 12 and exons 29-31. It encodes for a motor protein KIF21A of 1674 amino acids. Several mutation has been reported in the KIF21A gene.

 

The aim of this work was to

1. carry out the mutation analysis of the KIF21A gene in a four-generation Indian family affected with and to CFEOM1

2. find out the molecular basis of the most frequent mutations c.2860C>T and c.2861G>A in exon 21 of the KIF21A gene.

 

Related Publications:

Ali, A. M. et al. Ophthal Genet 25(4):247-255 (full text: HTML/PDF).