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We describe a recurrent (c.2860C>T) missense KIF21A mutation identified in a Chinese family with CFEOM1 (congenital fibrosis of the extraocular muscles type 1) phenotypes.
A heterozygous mutation, c.2860C>T (p.R954W), in KIF21A was identified in two families with congenital fibrosis of the extraocular muscles type 1 and 3, and this was cosegregated with the presence of the diseases in the two families, however, it was absent in the 200 normal control subjects.
We explain the phenotypic findings associated with mutations in KIF21A
Germline mosaicism of KIF21A c.2860C>T is likely to cause the high occurrence of this mutation in the population.
This study demonistrated that the interaction between Kif21a and Map1b (show MAP1B ELISA Kits) is likely to play a critical role in the pathogenesis of CFEOM1 and highlights a selective vulnerability of the developing oculomotor nerve to perturbations of the axon cytoskeleton.
CFEOM1-associated mutations relieve autoinhibition of the KIF21A motor, and this results in enhanced KIF21A accumulation in axonal growth cones, aberrant axon morphology, and reduced responsiveness to inhibitory cues.
The data of this study suggested that KIF21A gene expression could have a role on the axonal transport and the development of the nervous system with implications on the resulting phenotype of subjects with Down syndrome.
Congenital fibrosis of extraocular muscle assciated with KIF21A mutation.
The diffuse and widespread expression of KIF21A in the developing human and mouse central and peripheral nervous system as well as in extraocular muscle does not account for the restricted ocular phenotype observed in Congenital fibrosis of the extraocular muscles type 1.
Expression of RRP1B, PCNT (show PCNT ELISA Kits), KIF21A and ADRB2 (show ADRB2 ELISA Kits) in leucocytes of Down's syndrome subjects, was analyzed.
This gene encodes a member of the KIF4 subfamily of kinesin-like motor proteins. The encoded protein is characterized by an N-terminal motor domain a coiled-coil stalk domain and a C-terminal WD-40 repeat domain. This protein may be involved in microtubule dependent transport. Mutations in this gene are the cause of congenital fibrosis of extraocular muscles-1. Alternate splicing results in multiple transcript variants.
kinesin-like protein KIF21A
, kinesin family member 21A
, kinesin-like protein KIF2
, renal carcinoma antigen NY-REN-62
, N-5 kinesin