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
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
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.

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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2.

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

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3.

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

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4.

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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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. (1986) Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate.

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7.

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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8.

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

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9.

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

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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.

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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12.

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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13.

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

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14.

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

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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.

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

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17.

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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18.

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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19.

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

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20.

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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21.

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

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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.

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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24.

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

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25.

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

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Update: Sept. 26, 2018