Diagnosis and Testing
How do I get tested for Arts syndrome?
A doctor can order testing for Arts syndrome. When a male infant or young boy has symptoms of Arts syndrome (profound hearing loss, muscle problems, intellectual disability, vision loss), he will often be referred to see a specialist such as a pediatric neurologist, geneticist or a metabolic disease specialist. If the medical team is concerned about a diagnosis of Arts syndrome, testing can be ordered.
There are several tests that can be used to help diagnose Arts syndrome. Results of some screening tests can suggest to doctors that a patient may have Arts syndrome. These screening tests would typically only be useful in boys, because boys have more severe symptoms of Arts syndrome than females. Many females do not show any symptoms of Arts syndrome, and for those that do, the symptoms are mild.
A test looking at the levels of purines in a urine sample will be abnormal in a boy with Arts syndrome. Purines are molecules that are needed to carry out many basic cell functions in our body. Boys with Arts syndrome are not able to make purines correctly, so results of a urine purine text would be abnormal. Doctors may also order a test of uric acid in a blood sample. Uric acid is a chemical that is created when the body breaks down purines. Uric acid levels in boys with Arts syndrome are in the normal range, but they are on the lower end of the normal range. These test results may lead doctors to order more specific testing for Arts syndrome.
Arts syndrome is caused by an unexpected change, called a mutation, in a gene called PRPS1. People have about 20,000-25,000 genes in their bodies. Our genes contain our body's genetic information, called DNA. Genes are inherited from our parents and passed on to our children. Genes are like our body's instruction manual - they control the growth, development and normal function of the body. When a mutation happens in a gene, the gene cannot work properly. It is like a section of the body's instruction manual is not correct, and it causes problems with the normal development and functioning of the body. When a specific type of mutation occurs in the PRPS1 gene, it causes Arts syndrome. A doctor can order a test of the PRPS1 gene in a patient with symptoms of Arts syndrome.
Detecting a certain type of mutation in the PRPS1 gene confirms a diagnosis of Arts syndrome. This type of genetic testing must be performed at a specialized laboratory. A genetic counselor or medical geneticist can help you understand the current testing that is available. There is also a list of current labs that offer testing on the Genetic Testing Registry website. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.
de Brouwer APM, Duley JA, Christodoulou J. Arts syndrome. 2008 Oct 21 [Updated 2011 Mar 29]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK2591/
Mittal R, Patel K, Mittal J, et al. Association of PRPS1 Mutations with Disease Phenotypes. Dis Markers. 2015; 2015:127013. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4458296/