Role of AHI1, NEB, and PAX3 genes in the development of non-syndromic strabismus in an Iranian population
Maliheh Rahpeyma1 , Alireza Pasdar1 *, Aliakbar Sabermoghaddam2 , Mohammad Yaser Kiarudi3
- Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
- Eye Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
- Eye research center, Mashhad University of Medical Sciences, Mashhad, Iran
Abstract: Many susceptibility genes have been proposed for strabismus. Among suggestive genes for strabismus AHI1, NEB, and PAX3 genes are thought to be involved in the pathogenesis of strabismus. We aimed to look for causative genetic mutations in a family with strabismus.
Methods: Four families with a history of multiple cases of primary and non-syndromic comitant strabismus were enrolled in this study. Polymerase chain reaction (PCR) and Sanger sequencing of exon 23, 11, and 3 of AHI1, NEB, and PAX3 genes, were performed respectively. One offspring of a consanguineous marriage underwent whole-exome sequencing (WES) to look for possible causative variants.
Results: Sanger sequencing did not reveal a causative mutation. The WES study demonstrated 2 possible variants in MYO5B and DHODH genes. These genetic variants showed high allele frequency in our population and are thought to be polymorphism in our Iranian population
Conclusion: We demonstrated that mutations in AHI1, NEB, and PAX3 genes are not common in Iranian patients with familial strabismus. Moreover, by performing WES we revealed that 2 variants of unknown significance (VUS) that were initially candidates as possible causative variants for strabismus, are not related to this disease in our population
