en 30555664 <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> Fibrosis of extra ocular muscles, Iran, Mutation, Prenatal diagnosis 273 276 https://www.ajmb.org/En/Article.aspx?id=10357 https://www.ajmb.org/PDF/En/FullText/10357.pdf MasoomehRamahiDepartment of Biology, Sabzevar branch, Islamic Azad University, Sabzevar, Iran11400AbolfazlRadCellular and Molecular Research Center, Sabzevar University of Medical Sciences, Sabzevar, Iran1215EbrahimShirzadehDepartment of Ophthalmology, Sabzevar University of Medical Sciences, Sabzevar, Iran11402MaryamNajafiGenome Research Division, Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 KL, Nijmegen, Netherlands11403