Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Arts-Syndrom
PRPS1
X-chromosomale Charcot-Marie-Tooth-Krankheit Typ 5
PRPS1
Schwerhörigkeit, nicht-syndromale sensorineurale, X-chromosomale, Typ DFN
PRPS1
PRPS-bedingte Gicht
PRPS1
Phosphoribosylpyrophosphat-Synthetase-Überaktivität
PRPS1

Referenzen:

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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