Arts syndrome (syndrome Arts) - Gen PRPS1.
The Arts syndrome is a disorder that causes severe neurological problems in men. Women can also be affected by this change, but often have much milder symptoms.
Arts syndrome children have a profound sensorineural hearing loss, which is a complete or almost complete hearing loss caused by abnormalities in the inner ear. Other features of this syndrome include hypotonia, ataxia, developmental delay and intellectual disability. In early childhood, affected children develop vision loss caused by optic nerve atrophy. Also they have peripheral neuropathy. Arts syndrome children also tend to have recurrent infections, especially in the respiratory tract. Because of these infections and their complications, affected children often do not survive beyond infancy.
This process is due to mutations in the gene PRPS1, located on the long arm of the X chromosome (Xq22.3) encoding the phosphoribosyl pyrophosphate synthetase enzyme 1 (PRPP synthetase 1). This enzyme is involved in the synthesis of purines and pyrimidines, which are part of DNA, RNA, and as ATP and GTP molecules constituting sources of energy in cells. The purines and pyrimidines may be synthesized from smaller molecules, or can be recycled from decomposition of DNA and RNA through a series of reactions called the recovery path. The synthesis of purines and pyrimidines uses much more energy and requires more time than recycling them, making recycling of these molecules more efficient. The recovery path ensures that the cells have an abundant supply of purines and pyrimidines.
They have identified at least two genetic mutations in the gene that cause PRPS1 Arts syndrome. Genetic mutations replace amino acids in the enzyme PRPP synthetase 1. It is believed that the mutations result in the synthesis of an unstable enzyme with little or no activity. The interruption in the purine and pyrimidine synthesis can impair the energy storage and transport in cells. The deterioration of these processes can have a particularly severe effect on tissues that require a lot of energy, such as the nervous system, resulting in the characteristic neurological problems syndrome. It is not clear the reason for the increased risk of respiratory infections.
This disease is inherited in an X - linked pattern as the gene associated with this change is on chromosome X. In males, a mutation in the single gene copy in each cell causes syndrome. In women, a mutation in one of the two copies of the gene in each cell sometimes causes characteristics, but nevertheless, in other cases, no symptoms.
Tests in IVAMI: in IVAMI perform detection of mutations associated with Arts syndrome, by complete PCR amplification of the gene exons PRPS1 and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).