Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1

Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Linkage analysis in a Dutch family and an Australian family suggested that the candidate gene maps to Xq22.1-q24. Oligonucleotid...

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Published inAmerican journal of human genetics Vol. 81; no. 3; pp. 507 - 518
Main Authors de Brouwer, Arjan P.M., Williams, Kelly L., Duley, John A., van Kuilenburg, André B.P., Nabuurs, Sander B., Egmont-Petersen, Michael, Lugtenberg, Dorien, Zoetekouw, Lida, Banning, Martijn J.G., Roeffen, Melissa, Hamel, Ben C.J., Weaving, Linda, Ouvrier, Robert A., Donald, Jennifer A., Wevers, Ron A., Christodoulou, John, van Bokhoven, Hans
Format Journal Article
LanguageEnglish
Published Chicago, IL Elsevier Inc 01.09.2007
University of Chicago Press
Cell Press
American Society of Human Genetics
Subjects
Ataxia - genetics
Biological and medical sciences
Cell Line
Chromosomes, Human, X - genetics
Clinical trials
Erythrocytes - enzymology
Female
Fibroblasts - enzymology
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genes
Genetic Linkage
Genetics
Genetics of eukaryotes. Biological and molecular evolution
Hearing Loss - genetics
Humans
Intellectual Disability - genetics
Male
Medical disorders
Medical genetics
Medical sciences
Molecular and cellular biology
Muscle Hypotonia - genetics
Mutation
Mutation, Missense
Optic Atrophies, Hereditary - genetics
Pedigree
Protein Conformation
Purines - biosynthesis
Ribose-Phosphate Pyrophosphokinase - analysis
Ribose-Phosphate Pyrophosphokinase - chemistry
Ribose-Phosphate Pyrophosphokinase - genetics
Syndrome
Human
Loss function
Genetics
Art
Mutation
Syndrome
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Abstract Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Linkage analysis in a Dutch family and an Australian family suggested that the candidate gene maps to Xq22.1-q24. Oligonucleotide microarray expression profiling of fibroblasts from two probands of the Dutch family revealed reduced expression levels of the phosphoribosyl pyrophosphate synthetase 1 gene ( PRPS1). Subsequent sequencing of PRPS1 led to the identification of two different missense mutations, c.455T→C (p.L152P) in the Dutch family and c.398A→C (p.Q133P) in the Australian family. Both mutations result in a loss of phosphoribosyl pyrophosphate synthetase 1 activity, as was shown in silico by molecular modeling and was shown in vitro by phosphoribosyl pyrophosphate synthetase activity assays in erythrocytes and fibroblasts from patients. This is in contrast to the gain-of-function mutations in PRPS1 that were identified previously in PRPS-related gout. The loss-of-function mutations of PRPS1 likely result in impaired purine biosynthesis, which is supported by the undetectable hypoxanthine in urine and the reduced uric acid levels in serum from patients. To replenish low levels of purines, treatment with S-adenosylmethionine theoretically could have therapeutic efficacy, and a clinical trial involving the two affected Australian brothers is currently underway.
AbstractList Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Linkage analysis in a Dutch family and an Australian family suggested that the candidate gene maps to Xq22.1-q24. Oligonucleotide microarray expression profiling of fibroblasts from two probands of the Dutch family revealed reduced expression levels of the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1). Subsequent sequencing of PRPS1 led to the identification of two different missense mutations, c.455T-->C (p.L152P) in the Dutch family and c.398A-->C (p.Q133P) in the Australian family. Both mutations result in a loss of phosphoribosyl pyrophosphate synthetase 1 activity, as was shown in silico by molecular modeling and was shown in vitro by phosphoribosyl pyrophosphate synthetase activity assays in erythrocytes and fibroblasts from patients. This is in contrast to the gain-of-function mutations in PRPS1 that were identified previously in PRPS-related gout. The loss-of-function mutations of PRPS1 likely result in impaired purine biosynthesis, which is supported by the undetectable hypoxanthine in urine and the reduced uric acid levels in serum from patients. To replenish low levels of purines, treatment with S-adenosylmethionine theoretically could have therapeutic efficacy, and a clinical trial involving the two affected Australian brothers is currently underway.
Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Linkage analysis in a Dutch family and an Australian family suggested that the candidate gene maps to Xq22.1-q24. Oligonucleotide microarray expression profiling of fibroblasts from two probands of the Dutch family revealed reduced expression levels of the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1). Subsequent sequencing of PRPS1 led to the identification of two different missense mutations, c.455T...C (p.L152P) in the Dutch family and c.398A...C (p.Q133P) in the Australian family. Both mutations result in a loss of phosphoribosyl pyrophosphate synthetase 1 activity, as was shown in silico by molecular modeling and was shown in vitro by phosphoribosyl pyrophosphate synthetase activity assays in erythrocytes and fibroblasts from patients. This is in contrast to the gain-of-function mutations in PRPS1 that were identified previously in PRPS-related gout. The loss-of-function mutations of PRPS1 likely result in impaired purine biosynthesis, which is supported by the undetectable hypoxanthine in urine and the reduced uric acid levels in serum from patients. To replenish low levels of purines, treatment with S-adenosylmethionine theoretically could have therapeutic efficacy, and a clinical trial involving the two affected Australian brothers is currently underway. (ProQuest: ... denotes formulae/symbols omitted.)
Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Linkage analysis in a Dutch family and an Australian family suggested that the candidate gene maps to Xq22.1-q24. Oligonucleotide microarray expression profiling of fibroblasts from two probands of the Dutch family revealed reduced expression levels of the phosphoribosyl pyrophosphate synthetase 1 gene ( PRPS1 ). Subsequent sequencing of PRPS1 led to the identification of two different missense mutations, c.455T→C (p.L152P) in the Dutch family and c.398A→C (p.Q133P) in the Australian family. Both mutations result in a loss of phosphoribosyl pyrophosphate synthetase 1 activity, as was shown in silico by molecular modeling and was shown in vitro by phosphoribosyl pyrophosphate synthetase activity assays in erythrocytes and fibroblasts from patients. This is in contrast to the gain-of-function mutations in PRPS1 that were identified previously in PRPS-related gout. The loss-of-function mutations of PRPS1 likely result in impaired purine biosynthesis, which is supported by the undetectable hypoxanthine in urine and the reduced uric acid levels in serum from patients. To replenish low levels of purines, treatment with S -adenosylmethionine theoretically could have therapeutic efficacy, and a clinical trial involving the two affected Australian brothers is currently underway.
Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Linkage analysis in a Dutch family and an Australian family suggested that the candidate gene maps to Xq22.1-q24. Oligonucleotide microarray expression profiling of fibroblasts from two probands of the Dutch family revealed reduced expression levels of the phosphoribosyl pyrophosphate synthetase 1 gene ( PRPS1). Subsequent sequencing of PRPS1 led to the identification of two different missense mutations, c.455T→C (p.L152P) in the Dutch family and c.398A→C (p.Q133P) in the Australian family. Both mutations result in a loss of phosphoribosyl pyrophosphate synthetase 1 activity, as was shown in silico by molecular modeling and was shown in vitro by phosphoribosyl pyrophosphate synthetase activity assays in erythrocytes and fibroblasts from patients. This is in contrast to the gain-of-function mutations in PRPS1 that were identified previously in PRPS-related gout. The loss-of-function mutations of PRPS1 likely result in impaired purine biosynthesis, which is supported by the undetectable hypoxanthine in urine and the reduced uric acid levels in serum from patients. To replenish low levels of purines, treatment with S-adenosylmethionine theoretically could have therapeutic efficacy, and a clinical trial involving the two affected Australian brothers is currently underway.
Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonla, ataxia, delayed motor development, hearing impairment, and optic atrophy. Linkage analysis In a Dutch family and an Australian family suggested that the candidate gene maps to Xq22.1-q24. Oligonucleotide microarray expression profiling of fibroblasts from two probands of the Dutch family revealed reduced expression levels of the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1). Subsequent sequencing of PRPS1 led to the identification of two different missense mutations, C.455T arrow right C (p.L152P) in the Dutch family and C.398A arrow right C (p.Q133P) in the Australian family. Both mutations result In a loss of phosphoribosyl pyrophosphate synthetase 1 activity, as was shown in silico by molecular modeling and was shown in vitro by phosphoribosyl pyrophosphate synthetase activity assays in erythrocytes and fibroblasts from patients. This is in contrast to the gain-of-function mutations in PRPS1 that were Identified previously in PRPS-related gout The loss-of-function mutations of PRPS1 likely result in impaired purine biosynthesis, which is supported by the undetectable hypoxanthine in urine and the reduced uric acid levels In serum from patients. To replenish low levels of purines, treatment with S-adenosylmethlonine theoretically could have therapeutic efficacy, and a clinical trial involving the two affected Australian brothers is currently underway.
Author Roeffen, Melissa
Williams, Kelly L.
Weaving, Linda
Ouvrier, Robert A.
Duley, John A.
de Brouwer, Arjan P.M.
Donald, Jennifer A.
Nabuurs, Sander B.
Hamel, Ben C.J.
Christodoulou, John
van Kuilenburg, André B.P.
Banning, Martijn J.G.
Zoetekouw, Lida
van Bokhoven, Hans
Wevers, Ron A.
Lugtenberg, Dorien
Egmont-Petersen, Michael
AuthorAffiliation From the Departments of Human Genetics (A.P.M.d.B.; M.E.-P.; D.L.; M.J.G.B.; M.R.; B.C.J.H.; H.v.B.) and Neurology (R.A.W.), Radboud University Nijmegen Medical Centre, and Centre for Molecular and Biomolecular Informatics, Radboud University Nijmegen (S.B.N.), Nijmegen, The Netherlands; Department of Biological Sciences, Macquarie University (K.L.W.; J.A.D.), Western Sydney Genetics Program (L.W.; J.C.) and TY Nelson Department of Neurology and Neurosurgery (R.A.O.), Children’s Hospital at Westmead, and Discipline of Paediatrics and Child Health, University of Sydney (R.A.O.; J.C.), Syndey; School of Pharmacy, University of Queensland (J.A.D.), and Department of Pathology, Mater Hospital (J.A.D.), Brisbane, Australia; and Emma Children’s Hospital and Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam (A.B.P.v.K.; L.Z.)
AuthorAffiliation_xml – name: From the Departments of Human Genetics (A.P.M.d.B.; M.E.-P.; D.L.; M.J.G.B.; M.R.; B.C.J.H.; H.v.B.) and Neurology (R.A.W.), Radboud University Nijmegen Medical Centre, and Centre for Molecular and Biomolecular Informatics, Radboud University Nijmegen (S.B.N.), Nijmegen, The Netherlands; Department of Biological Sciences, Macquarie University (K.L.W.; J.A.D.), Western Sydney Genetics Program (L.W.; J.C.) and TY Nelson Department of Neurology and Neurosurgery (R.A.O.), Children’s Hospital at Westmead, and Discipline of Paediatrics and Child Health, University of Sydney (R.A.O.; J.C.), Syndey; School of Pharmacy, University of Queensland (J.A.D.), and Department of Pathology, Mater Hospital (J.A.D.), Brisbane, Australia; and Emma Children’s Hospital and Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam (A.B.P.v.K.; L.Z.)
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  organization: Department of Biological Sciences, Macquarie University
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  organization: Emma Children’s Hospital and Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam
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  givenname: Sander B.
  surname: Nabuurs
  fullname: Nabuurs, Sander B.
  organization: Department of Radboud University Nijmegen Medical Centre, and Centre for Molecular and Biomolecular Informatics, Radboud University Nijmegen, Nijmegen, The Netherlands
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  surname: Egmont-Petersen
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  organization: Emma Children’s Hospital and Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam
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  fullname: Banning, Martijn J.G.
  organization: Department of Human Genetics
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  givenname: Melissa
  surname: Roeffen
  fullname: Roeffen, Melissa
  organization: Department of Human Genetics
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  givenname: Ben C.J.
  surname: Hamel
  fullname: Hamel, Ben C.J.
  organization: Department of Human Genetics
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  surname: Weaving
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  organization: Western Sydney Genetics Program
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  givenname: Robert A.
  surname: Ouvrier
  fullname: Ouvrier, Robert A.
  organization: TY Nelson Department of Neurology and Neurosurgery, Syndey
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  givenname: Jennifer A.
  surname: Donald
  fullname: Donald, Jennifer A.
  organization: Department of Biological Sciences, Macquarie University
– sequence: 15
  givenname: Ron A.
  surname: Wevers
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  organization: Department of Human Genetics
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2007 by The American Society of Human Genetics. All rights reserved. 2007
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Issue 3
Keywords Human
Loss function
Genetics
Art
Mutation
Syndrome
Language English
License http://www.elsevier.com/open-access/userlicense/1.0
CC BY 4.0
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content type line 23
OpenAccessLink https://www.sciencedirect.com/science/article/pii/S0002929707613470
PMID 17701896
PQID 219631199
PQPubID 24320
PageCount 12
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crossref_primary_10_1086_520706
pubmed_primary_17701896
pascalfrancis_primary_19033936
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PublicationCentury 2000
PublicationDate 2007-09-01
PublicationDateYYYYMMDD 2007-09-01
PublicationDate_xml – month: 09
  year: 2007
  text: 2007-09-01
  day: 01
PublicationDecade 2000
PublicationPlace Chicago, IL
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– name: Chicago
PublicationTitle American journal of human genetics
PublicationTitleAlternate Am J Hum Genet
PublicationYear 2007
Publisher Elsevier Inc
University of Chicago Press
Cell Press
American Society of Human Genetics
Publisher_xml – name: Elsevier Inc
– name: University of Chicago Press
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– name: American Society of Human Genetics
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SSID ssj0011803
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Snippet Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and...
Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonla, ataxia, delayed motor development, hearing impairment, and...
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elsevier
SourceType Open Access Repository
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StartPage 507
SubjectTerms Ataxia - genetics
Biological and medical sciences
Cell Line
Chromosomes, Human, X - genetics
Clinical trials
Erythrocytes - enzymology
Female
Fibroblasts - enzymology
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genes
Genetic Linkage
Genetics
Genetics of eukaryotes. Biological and molecular evolution
Hearing Loss - genetics
Humans
Intellectual Disability - genetics
Male
Medical disorders
Medical genetics
Medical sciences
Molecular and cellular biology
Muscle Hypotonia - genetics
Mutation
Mutation, Missense
Optic Atrophies, Hereditary - genetics
Pedigree
Protein Conformation
Purines - biosynthesis
Ribose-Phosphate Pyrophosphokinase - analysis
Ribose-Phosphate Pyrophosphokinase - chemistry
Ribose-Phosphate Pyrophosphokinase - genetics
Syndrome
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Title Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1
URI https://dx.doi.org/10.1086/520706
https://www.ncbi.nlm.nih.gov/pubmed/17701896
https://www.proquest.com/docview/219631199
https://search.proquest.com/docview/20894377
https://search.proquest.com/docview/68165263
https://pubmed.ncbi.nlm.nih.gov/PMC1950830
Volume 81
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