がんの科学と治療

The Role of Mutations on NAGA Gene in Schindler Syndrome

Abstract

Shahin Asadi and Mohaddeseh Mohsenifar

Schindler syndrome is an inherited genetic disorder that mainly causes neurological problems. Schindler's syndrome is caused by a mutation in the NAGA gene, which is located in the long arm of chromosome 22 as 22q13.2. Amniocentesis or chorionic villus sampling can be used to screen for the disease before birth. After birth, urine tests, along with blood tests and skin biopsies can be used to diagnose Schindler disease. Genetic testing is also always an option, since different forms of Schindler disease have been mapped to the same gene on chromosome 22; though different changes (mutations) of this gene are responsible for the infantile- and adult-onset forms of the disease. The Genetic testing Registry can be used to acquire information about the genetic tests for this condition.