The Role of Genetic Mutations in MPZ, EGR2, PMP22, PRX Genes on the Dejerine-Sottas Syndrome

Asadi S, Koohestani S and Zare A

Published on: 2025-10-22

Abstract

Dejerine-Sottas syndrome (DSS) is an inherited neurological condition that gradually affects the ability to move. Peripheral nerves are the nerves outside the brain and spinal cord. These nerves become enlarged or thickened, leading to muscle weakness. The condition may progress irregularly and can often be accompanied by pain, weakness, numbness, and a tingling, prickling, or burning sensation in the legs. DSS often begins suddenly around the age of two. Tingling, tingling, or burning sensations are usually the first symptoms. Muscle weakness is usually first seen in the back of the leg. It then spreads to the muscles in the front of the leg. Children may have delayed motor milestones, including walking, in preschool or later. DSS is caused by changes (mutations) in several different genes. The genes associated with DSS include the MPZ gene, located on the long arm of chromosome 1 at 1q23.3, the EGR2 gene, located on the long arm of chromosome 10 at 10q21.3, the PMP22 gene, located on the short arm of chromosome 17 at 17p12, and the PRX gene, located on the long arm of chromosome 19 at 19q13.2. Mutations in these genes can lead to the progressive loss of myelin (the protective sheath around nerves), which leads to muscle weakness and movement problems.