Gene: PRPS1

Alternate names for this Gene: ARTS|CMTX5|DFN2|DFNX1|PPRibP|PRS-I|PRSI

Gene Summary: This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: X

Location in Chromosome : Xq22.3

Description of this Gene: phosphoribosyl pyrophosphate synthetase 1

Type of Gene: protein-coding

rs80338676 in PRPS1 gene and ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION PMID 17701896 2007 Arts syndrome is caused by loss-of-function mutations in PRPS1.

rs587781262 in PRPS1 gene and CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 PMID 25182139 2015 The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

PMID 17701900 2007 The mutations identified were E43D, in patients with Rosenberg-Chutorian syndrome, and M115T, in the Korean patients with CMTX5.

PMID 17701900 2007 The mutations identified were E43D, in patients with Rosenberg-Chutorian syndrome, and M115T, in the Korean patients with CMTX5.

rs587781261 in PRPS1 gene and DEAFNESS, X-LINKED 1 (disorder) PMID 25182139 2015 The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

rs137852540 in PRPS1 gene and Dysmorphic features PMID 24285972 2013 Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.

PMID 26089585 2015 Association of PRPS1 Mutations with Disease Phenotypes.

PMID 20021999 2010 Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

PMID 17701896 2007 Arts syndrome is caused by loss-of-function mutations in PRPS1.

PMID 20380929 2010 PRPS1 mutations: four distinct syndromes and potential treatment.

PMID 24528855 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.

PMID 12847698 2003 Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman.

PMID 25491489 2014 Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

PMID 15955956 2005 A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

PMID 8498830 1993 X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.

PMID 8968763 1996 Mapping of DFN2 to Xq22.

PMID 25785835 2015 Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

rs1556299881 in PRPS1 gene and Multiple congenital anomalies PMID 26089585 2015 Association of PRPS1 Mutations with Disease Phenotypes.

PMID 8968763 1996 Mapping of DFN2 to Xq22.

PMID 24285972 2013 Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.

PMID 25785835 2015 Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

PMID 17701896 2007 Arts syndrome is caused by loss-of-function mutations in PRPS1.

PMID 8498830 1993 X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.

PMID 24528855 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.

PMID 20380929 2010 PRPS1 mutations: four distinct syndromes and potential treatment.

PMID 15955956 2005 A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

PMID 20021999 2010 Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

PMID 12847698 2003 Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman.

PMID 25491489 2014 Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

rs137852540 in PRPS1 gene and Muscle hypotonia PMID 8968763 1996 Mapping of DFN2 to Xq22.

PMID 25785835 2015 Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

PMID 26089585 2015 Association of PRPS1 Mutations with Disease Phenotypes.

PMID 8498830 1993 X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.

PMID 25491489 2014 Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

PMID 20021999 2010 Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

PMID 15955956 2005 A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

PMID 24528855 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.

PMID 17701896 2007 Arts syndrome is caused by loss-of-function mutations in PRPS1.

PMID 20380929 2010 PRPS1 mutations: four distinct syndromes and potential treatment.

PMID 24285972 2013 Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.

PMID 12847698 2003 Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman.

rs587781261 in PRPS1 gene and Nonsyndromic sensorineural hearing loss PMID 25182139 2015 The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

rs137852540 in PRPS1 gene and Phosphoribosylpyrophosphate Synthetase Superactivity PMID 7593598 1995 The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.

PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

rs587781262 in PRPS1 gene and Sensorineural Hearing Loss (disorder) PMID 25182139 2015 The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.