Identification of novel mutations in leber congenital amaurosis 1 using next generation sequencing

Leber congenital amaurosis (LCA) is a vision loss disorder that begins in infancy. Different genes are associated with LCA. They usually have autosomal recessive inheritance. In the present study, the genetic basis of congenital blindness in two Iranian families was examined.

technique was used for investigation of the underlying mutations in patients with LCA. The Sanger sequencing was employed to validate the identified potential pathogenic mutations.

In the present study, two novel mutations in GUCY2D gene were detected in probands. First mutation was a frameshift mutation caused by single base deletion (c.1264delC), and the second one was a nonsense mutation (c.2116C>T) resulting in stop codon. It was found that the carrier members were unaffected while the affected ones were homozygotes. Both mutations were confirmed using Sanger sequencing.

Herein, two novel pathogenic mutations were reported in Leber congenital amaurosis. This would be of importance in genetic diagnosis and consultation of patients affected with LCA.