What does it mean to have inherited a "variant" in the gene 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 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. While mutations are gene changes that are harmful to genes, other types of gene changes are not harmful. These type of changes are called "normal variants", or "benign variants". A normal variant of the PRPS1 gene would not cause Arts syndrome. Sometimes when a person has testing of the PRPS1 gene, the laboratory can find a variant in the gene that has not been reported before. It may be difficult for the laboratory to figure out how this variant will affect the gene. These types of gene changes are called "variants of unknown significance", or "variants of uncertain significance". Additional testing may be able to help determine if the variant is a normal variant or a harmful mutation.
A genetic counselor can help explain the meaning of a PRPS1 variant and may be able to recommend additional testing to learn more about a PRPS1 variant. 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/http://ghr.nlm.nih.gov/condition/arts-syndrome