Literature reviews revealed pathogenic variants in the TUBBI (Tubulin Beta 1 Class VI), TUBBI (Tubulin Beta 2 Class II), TUBB3 (Tubulin Beta 3 Class III) (3), TUKLS (Tukel syndrome) (6), KIF21A (Kinesin Family Member 21 A) (8), COL2A1 (Collagen Type XXV Alpha 1 Chain) (7) and PHOX2A (Paired Like Homeobox 2a) (2) genes in different types of CFEOM.
The first time, Yamada et al reported mutations in the KIF21A in 45 patients with CFEOM1 phenotype (8).
This study for the first time reported association of C.2860OT KIF21A in the CFEOMlA phenotype in an Iranian family.
For time and cost saving, instead of doing Whole Exome Sequencing (WES) or performing Sanger sequencing on the known genes, according to the literature reviews, only KIF21A and TUBB3 were sequenced which are involved in the most common form of CFEOM.
C.2860OT mutation changed the 954 (th) amino acid of KIF21A from Arginine to Tryptophan (p.
In this paper, for the first time, the association of pathogenic variant c.2860C>T in KIF21A gene in an Iranian family with positive history of CFEOM1A was reported.
However, a mutation in the KIF21A
gene, which was identified in congenital fibrosis of extraocular muscles type 1, has been reported in cases of MS accompanied by additional eye movement disorder (3).
Sinir hucrelerinde anterograd organel akimi ile iliskili motor proteinini kodlayan KIF21A (KInesin Family 21 A) geninde farkli missense (yanlis anlamli) mutasyonlar saptanmistir.
En az iki gende heterozigot mutasyonlar tespit edilmistir: TUBB3 (KEOKF 3A) ve KIF21A geni (KEOKF 3B).
Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. Invest Ophthalmol Vis Sci.
A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon.
(15.) Wang P, Li S, Xiao X, Guo X, Zhang Q, KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1.