Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Arts syndrome is a lethal x-linked recessive neurological disorder caused by mutations of the PRPS1 gene. It is characterized by ataxia, deafness and optic atrophy.
| 1. |
Arts WF et al. (1993) X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. 
|
| 2. |
de Brouwer AP et al. (2007) Arts syndrome is caused by loss-of-function mutations in PRPS1.
|
| 3. |
de Brouwer AP et al. (2010) PRPS1 mutations: four distinct syndromes and potential treatment.
|
| 4. |
Moran R et al. (2012) Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
|
| 5. |
Synofzik M et al. (2014) X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.
|
| 6. |
Almoguera B et al. (2014) Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
|
| 7. |
Schmidley JW et al. (1987) Infantile X-linked ataxia and deafness: a new clinicopathologic entity?
|
| 8. |
Kremer H et al. (1996) Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood.
|
| 9. |
Orphanet article Orphanet ID 1187
|
| 10. |
OMIM.ORG article Omim 301835
|
| 11. |
Wikipedia article Wikipedia EN (Arts_syndrome)
|
 |
Copyright © 2005-2025 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944 Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits |
