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Arts syndrome is a disorder that causes serious neurological and immune system problems in males. Females can also be affected by this condition, but they typically have much milder symptoms.
Boys with Arts syndrome have profound sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear. Other features of the disorder include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and intellectual disability. In early childhood, affected boys develop vision loss caused by degeneration of nerves that carry information from the eyes to the brain (optic atrophy). They also experience loss of sensation and weakness in the limbs (peripheral neuropathy).
Boys with Arts syndrome also have problems with their immune system that lead to recurrent infections, especially involving the respiratory system. Because of these infections and their complications, affected boys often do not survive past early childhood.
In females with Arts syndrome, hearing loss that begins in adulthood may be the only symptom.
Arts syndrome appears to be extremely rare. Only a few families with this disorder have been identified.
Mutations in the PRPS1 gene cause Arts syndrome. The PRPS1 gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines. Purines and pyrimidines are building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP that serve as energy sources in the cell.
The PRPS1 mutations that cause Arts syndrome replace one protein building block (amino acid) with another amino acid in the PRPP synthetase 1 enzyme. The resulting enzyme is probably unstable, reducing or eliminating its ability to perform its function. The disruption of purine and pyrimidine production may impair energy storage and transport in cells. Impairment of these processes may have a particularly severe effect on tissues that require a large amount of energy, such as the nervous system and the immune system, resulting in the neurological problems and immune dysfunction characteristic of Arts syndrome.
Changes in this gene are associated with Arts syndrome.
This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell sometimes causes the disorder. Females with one copy of the mutated gene are much less severely affected by Arts syndrome than males; in many cases, they do not experience any symptoms.
In the small number of Arts syndrome cases that have been identified, affected individuals have inherited the mutation from a mother who carries an altered copy of the PRPS1 gene.
These resources address the diagnosis or management of Arts syndrome and may include treatment providers.
You might also find information on the diagnosis or management of Arts syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/arts-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/arts-syndrome/show/Patient+support).
General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).
To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
You may find the following resources about Arts syndrome helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
amino acid ; ataxia ; ATP ; atrophy ; cell ; chromosome ; developmental delay ; DNA ; enzyme ; gene ; GTP ; hypotonia ; immune system ; muscle tone ; mutation ; nervous system ; neurological ; neuropathy ; optic atrophy ; peripheral ; peripheral neuropathy ; protein ; purines ; pyrimidines ; respiratory ; RNA ; sensorineural ; sensorineural hearing loss ; sex chromosomes ; symptom ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.