Avicenna J Med Biotech arij002 Avicenna Journal of Medical Biotechnology 2008-2835 2008-4625 Avicenna Research Institute ajmb10357 <i>KIF21A</i> Gene c.2860C>T Mutation in CFEOM1A: The First Report from Iran RamahiMasoomehRadAbolfazlShirzadehEbrahimNajafiMaryam 10 4 273 276 30 7 2017 20 11 2017

<p>Congenital Fibrosis of the Extra Ocular Muscles1 (CFEOM1) is an autosomal dominant condition, caused by mutation in the <em>KIF21A</em> and <em>TUBB3</em>. 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&gt;T in <em>KIF21A</em> gene in an Iranian family with positive history of CFEOM1A was reported.</p>