Whole exome sequencing identified a novel homozygous ARV1 mutation in an Iranian family with developmental and epileptic encephalopathy-38

Abstract

Developmental and epileptic encephalopathy-38 (DEE38) is an inherited neurodegenerative disorder described by the onset of various type of seizures usually between around 4 and 7 months of age. Mutations in the ARV1 gene have recently been described in association with DEE38. Extracted genomic DNA from blood sample was used to perform whole exome sequencing in an affected member of an Iranian family with Developmental and Epileptic Encephalopathy type 38. The mutational screening revealed a novel homozygote ARV1 gene mutation c.593_594delTT (p.Ile198MetfsTer4) in the proband. We identified a novel homozygous deletion in the ARV1 that associates with the Developmental and epileptic encephalopathy-38.