KIF21A Gene c.2860C>T Mutation in CFEOM1A: The First Report from Iran.

ABSTRACT: Congenital Fibrosis of the Extra Ocular Muscles1 (CFEOM1) is an autosomal dominant condition, caused by mutation in the KIF21A and TUBB3. It is characterized by congenital non-progressive restrictive ophthalmoplegia and ptosis. Mutational analysis of the known genes in such rare diseases by Sanger sequencing not only prevents wasting the time and expenses but also speeds diagnosis process, genetic counseling, and the possibility of prenatal diagnosis. Here, for the first time, association of pathogenic variant c.2860C>T in KIF21A gene in an Iranian family with positive history of CFEO-M1A was reported.

SUBMITTER: Ramahi M 

PROVIDER: S-EPMC6252030 | biostudies-literature | 2018 Oct-Dec

REPOSITORIES: biostudies-literature