Congenital fibrosis of the extraocular muscles1a (cfeom1a) is an autosomal dominant condition characterized by ophthalmoplegia and ptosis from birth. here, we described a family with cfeom1a, in which sanger sequencing detected a pathogenic variant c.2860c>t in kif21a gene with specific primer pcr sequence
Using conventional pcr with specific primers, we amplified two candidate genes including tubb3 and kif21a, and, then monitored for common mutations by sanger method of dna sequencing in a 31-year-old male, who diagnosed with cfeom1a.
Sanger sequencing analysis illustrated kif21a c.2860c>t mutation in the proband. the segregation analysis confirmed this mutation in the family.
To the best our knowledge, this is the first report regarding the involvement of kif21a c.2860c>t pathogenic variant in an iranian family with cfeom1a