Author/Authors :
Ramahi, Masoomeh Department of Biology - Sabzevar branch Islamic Azad University, Sabzevar, Iran , Rad, Abolfazl Cellular and Molecular Research Center - Sabzevar University of Medical Sciences, Sabzevar, Iran , Shirzadeh, Ebrahim Department of Ophthalmology - Sabzevar University of Medical Sciences, Sabzevar, Iran , Najafi, Maryam Genome Research Division - Department of Human Genetics - Radboud University Medical Center - Geert Grooteplein Zuid 10, Nijmegen, The Netherlands
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 CFEOM1A
was reported.
Keywords :
Prenatal diagnosis , Mutation , Iran , Fibrosis of extra ocular muscles
