Arts syndrome

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.

References
  • 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/
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More Diagnosis and Testing Content

Is there newborn screening for Arts syndrome?

Is there more than one test for Arts syndrome?

Who else in my family should I test for Arts syndrome?

Is prenatal testing available for Arts syndrome?

Is there newborn screening for Arts syndrome?

In many countries of the world, newborns are tested for several medical conditions at birth. This is called newborn screening. Some people may refer to this testing as the "heel prick test" because a newborn's heel is pricked to get a blood sample for the test. Arts syndrome is not specifically tested for in newborn screening. Some newborn screening programs include testing for hearing loss. Because boys with Arts syndrome have profound deafness, it is possible that this symptom of the condition could be picked up by newborn screening. However, a baby would have to show more symptoms of Arts syndrome before a medical team would consider testing them for the condition. Testing for Arts syndrome would typically only be ordered if a doctor is suspicious that their patient may have the condition based on their symptoms.

References
Is there more than one test for Arts syndrome?

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.

References
  • 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/
Who else in my family should I test for Arts syndrome?

Female relatives of boys with Arts syndrome may have a chance to develop symptoms of the condition. They may also have a chance to pass the condition on to their children. A genetic counselor can help people understand the risk for Arts syndrome in a family by taking a detailed family history, learning more about the symptoms in the family, and reviewing the results of any Arts syndrome testing done in family members. A review of this information will help a genetic counselor determine if testing for Arts syndrome could be useful for other family members. 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.

References
  • 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/
Is prenatal testing available for Arts syndrome?

When a woman is pregnant, it is possible to test the baby for certain conditions before the baby is born. This is called prenatal diagnosis. Some parents who have a family member with Arts syndrome may choose to have prenatal diagnosis 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 there is a mutation in the PRPS1 gene, it causes Arts syndrome.

If the specific PRPS1 mutation that is causing Arts syndrome in the family is known, then prenatal testing can be performed. During the pregnancy, a test called chorionic villus sampling (CVS) can be performed to remove a sample of tissue from the placenta. Another test, called amniocentesis, involves taking a sample of the amniotic fluid that surrounds and protects a developing fetus. Only one of these tests needs to be performed. Genetic testing can then be performed on the cells from the placenta or the amniotic fluid to look for the PRPS1 mutation. Detecting the PRPS1 mutation that is know to cause Arts syndrome in the family confirms a diagnosis of Arts syndrome in the fetus. Genetic testing must be performed at a specialized laboratory. It is typically preferable for the prenatal testing to be performed at the same laboratory that first identified the PRPS1 mutation in the family.

A genetic counselor can help you understand more about this process and can help organize testing. 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.

References
  • 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/

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