Ribose-phosphate-Pyrophosphokinase 1
Das PRPS1-Gen kodiert ein wichtiges Enzym des Purinstoffwechsels. Mutationen führen zu verschiedenen x-chromosomal rezessiven Erkrankungen mit neurologischen Störungen, Schwerhörigkeit, Gicht und Diabetes.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
de Brouwer AP et al. (2007) Arts syndrome is caused by loss-of-function mutations in PRPS1.
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2. |
Dickinson ME et al. (2016) High-throughput discovery of novel developmental phenotypes.
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3. |
Wada Y et al. (1974) Hypouricemic, mentally retarded infant with a defect of 5-phosphoribosyl-1-pyrophosphate synthetase of erythrocytes.
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4. |
Taira M et al. (1989) Tissue-differential expression of two distinct genes for phosphoribosyl pyrophosphate synthetase and existence of the testis-specific transcript.
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5. |
Roessler BJ et al. (1990) Cloning of two distinct copies of human phosphoribosylpyrophosphate synthetase cDNA.
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6. |
Becker MA et al. (1990) Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes.
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7. |
Becker MA et al. (1979) Regional localization of the gene for human phosphoribosylpyrophosphate synthetase on the X chromosome.
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8. |
Lebo RV et al. (1978) Electrophoretic heterogeneity of 5-phosphoribosyl-1-pyrophosphate synthetase within and among humans.
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9. |
Roessler BJ et al. (1993) Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.
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10. |
Becker MA et al. (1995) The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.
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11. |
Becker MA et al. (1980) Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions.
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12. |
Becker MA et al. (1986) Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate.
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13. |
Zoref E et al. (1975) Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts.
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14. |
Liu X et al. (2010) Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
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15. |
Cui B et al. (2004) Refinement of the locus for non-syndromic sensorineural deafness (DFN2).
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16. |
Manolis EN et al. (1999) Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21.
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17. |
Tyson J et al. (1996) Mapping of DFN2 to Xq22.
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18. |
Robusto M et al. (2015) The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
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19. |
Park J et al. (2013) Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.
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20. |
Kim HJ et al. (2007) Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).
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21. |
Almoguera B et al. (2014) Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
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22. |
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.
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23. |
Moran R et al. (2012) Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
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24. |
de Brouwer AP et al. (2010) PRPS1 mutations: four distinct syndromes and potential treatment.
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25. |
Arts WF et al. (1993) X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.
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26. |
NCBI article
NCBI 5631
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27. |
OMIM.ORG article
Omim 311850
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28. |
Orphanet article
Orphanet ID 118076
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29. |
Wikipedia Artikel
Wikipedia DE (Ribosephosphat-Diphosphokinase)
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Update: 14. August 2020