LAMA1 gene variant associated with intellectual disability and sever myopia - a case report

Background and Aim : Here we report on a 12-year-old male patient, with a intellectual disability and sever myopia. The MRI test had been shown damage to the frontal and parietal lobes of the brain and hypoxic brain injury. Also, he had a sister with same phenotypes. He was a product of a consanguineous marriage.Methods : In this regard, we used whole exom sequencing, to detection of molecular causes of these phenotypes. Results : Chr18(7046357):c.C779A LAMA1 gene stop gain homozygote variant with autosomal recessive inheritance pattern was found. This rare variant was classified as likely pathogenic due to it causes truncated protein. Our segregation analysis results showed the same variant in his sister, and his parents were heterozygote.Conclusion : Pathogenic mutations in this gene is shown to lead to Poretti-Boltshauser syndrome. This syndrome characterized by cerebellar dysplasia, cerebellar vermis atrophy, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities including strabismus, ocular apraxia, nystagmus.

کلیدواژه ها:

Intellectual disability ، Sever myopia ، Poretti-Boltshauser syndrome ، LAMA1 gene