Arts syndrome

Causes

Why does my child have 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 someone is interested in testing for a mutation in the PRPS1 gene, a genetics clinic or neurology group would be the best type of medical teams to coordinate this testing.

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/
  • “Arts syndrome; ARTS.” Online Mendelian Inheritance in Man. 1 March 2016. Web. 14 June 2016. http://omim.org/entry/301835
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How does the gene change cause symptoms in Arts syndrome?

Can someone have Arts syndrome without a genetic alteration?

How does the gene change cause symptoms in 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 produce specific proteins that control the growth, development and normal function of the body. The PRPS1 gene makes a protein called phosphoribosyl pyrophosphate synthase 1 (PRPP synthase 1). PRPP synthase 1 helps to make molecules that our cells need to perform basic functions. A mutation in the PRPS1 gene causes PRPP synthase 1 to stop working. Without PRPP synthase 1, many basic functions of the body's cells are negatively affected, resulting the in the symptoms seen in Arts syndrome.

References
Can someone have Arts syndrome without a genetic alteration?

Arts syndrome is always 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 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. This is the only cause of Arts syndrome. If someone is interested in testing for a mutation in the PRPS1 gene, a genetics clinic or neurology group would be the best type of medical teams to coordinate this testing.

References

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