Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Ribose-phosphate pyrophosphokinase 1

The PRPS1 gene encodes an enzyme of purin metabolism which when mutated causes various x-linked recessive disorders with neurological abnormalities deafness, gout, and diabetes.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Arts syndrome
PRPS1
X-linked Charcot-Marie-Tooth disease type 5
PRPS1
X-linked non-syndromic sensorineural deafness type DFN
PRPS1
Gout PRPS-related
PRPS1
Phosphoribosylpyrophosphate synthetase superactivity
PRPS1

References:

1.

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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2.

de Brouwer AP et al. (2007) Arts syndrome is caused by loss-of-function mutations in PRPS1.

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3.

de Brouwer AP et al. (2010) PRPS1 mutations: four distinct syndromes and potential treatment.

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4.

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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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.

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6.

Almoguera B et al. (2014) Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

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7.

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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8.

Park J et al. (2013) Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.

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9.

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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10.

Tyson J et al. (1996) Mapping of DFN2 to Xq22.

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11.

Manolis EN et al. (1999) Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21.

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12.

Cui B et al. (2004) Refinement of the locus for non-syndromic sensorineural deafness (DFN2).

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13.

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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14.

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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15.

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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16.

Becker MA et al. (1980) Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions.

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17.

Becker MA et al. (1995) The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.

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18.

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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19.

Lebo RV et al. (1978) Electrophoretic heterogeneity of 5-phosphoribosyl-1-pyrophosphate synthetase within and among humans.

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20.

Becker MA et al. (1979) Regional localization of the gene for human phosphoribosylpyrophosphate synthetase on the X chromosome.

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21.

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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22.

Roessler BJ et al. (1990) Cloning of two distinct copies of human phosphoribosylpyrophosphate synthetase cDNA.

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23.

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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24.

Wada Y et al. (1974) Hypouricemic, mentally retarded infant with a defect of 5-phosphoribosyl-1-pyrophosphate synthetase of erythrocytes.

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25.

Dickinson ME et al. (2016) High-throughput discovery of novel developmental phenotypes.

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26.

NCBI article

NCBI 5631 [^]
27.

OMIM.ORG article

Omim 311850 [^]
28.

Orphanet article

Orphanet ID 118076 [^]
29.

Wikipedia article

Wikipedia EN (Ribose-phosphate_diphosphokinase) [^]
Update: April 29, 2019