A Novel Pathogenic Variant of COL4A1 Gene in a Patient with Neuropathy: A Case Report

Background: Neuropathies a result of damage to the peripheral nerves are a heterogeneous group of diseases which may occur due to underlying genetic abnormalities. Exciting capabilities of the whole exome sequencing to detect disorders at the level of genome, especially in heterogeneous disorder groups, made it easy to determine which of the genetic variation disease causing in an individual patient. This paper reports a novel COL4A1 gene variation that was found in a case with para-clinical diagnosis of neuropathy, following molecular analysis. Case presentation: We report a 54 year-old man from the Al-Zahra Hospital, Isfahan University of Medical Sciences admitted to genome genetic center with para-clinical diagnosis of neuropathy based on electromyography. Further molecular analysis of patient genomic DNA using whole exome sequencing, revealed a heterozygous COL4A1 pathogenic variant NM_001303110: c.A1G: p.M1V. The result verified by Sanger Sequencing.