Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene
Tyrosine hydroxylase (TH) deficiency (OMIM 191290) is one cause of early‐onset dopa‐responsive dystonia. We describe seven cases from five unrelated families with dopa‐responsive dystonia and low homovanillic acid in cerebrospinal fluid who were suspected to suffer from TH deficiency. Analysis of pa...
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| Veröffentlicht in: | Annals of neurology 2007-10, Vol.62 (4), p.422-426 |
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| container_title | Annals of neurology |
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| creator | Verbeek, Marcel M. Steenbergen-Spanjers, Gerry C. H. Willemsen, Michèl A. A. P. Hol, Frans A. Smeitink, Jan Seeger, Jürgen Grattan-Smith, Padraic Ryan, Monique M. Hoffmann, Georg F. Donati, Maria A. Blau, Nenad Wevers, Ronald A. |
| description | Tyrosine hydroxylase (TH) deficiency (OMIM 191290) is one cause of early‐onset dopa‐responsive dystonia. We describe seven cases from five unrelated families with dopa‐responsive dystonia and low homovanillic acid in cerebrospinal fluid who were suspected to suffer from TH deficiency. Analysis of part of the TH promotor showed five homozygous and two heterozygous mutations in the highly conserved cyclic adenosine monophosphate response element. Our data suggest that, if no mutations are found in the coding regions of the gene in patients strongly suspected of TH deficiency, the search for pathogenic mutations should be extended to regulatory promotor elements. Ann Neurol 2007 |
| doi_str_mv | 10.1002/ana.21199 |
| format | Article |
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H. ; Willemsen, Michèl A. A. P. ; Hol, Frans A. ; Smeitink, Jan ; Seeger, Jürgen ; Grattan-Smith, Padraic ; Ryan, Monique M. ; Hoffmann, Georg F. ; Donati, Maria A. ; Blau, Nenad ; Wevers, Ronald A.</creator><creatorcontrib>Verbeek, Marcel M. ; Steenbergen-Spanjers, Gerry C. H. ; Willemsen, Michèl A. A. P. ; Hol, Frans A. ; Smeitink, Jan ; Seeger, Jürgen ; Grattan-Smith, Padraic ; Ryan, Monique M. ; Hoffmann, Georg F. ; Donati, Maria A. ; Blau, Nenad ; Wevers, Ronald A.</creatorcontrib><description>Tyrosine hydroxylase (TH) deficiency (OMIM 191290) is one cause of early‐onset dopa‐responsive dystonia. We describe seven cases from five unrelated families with dopa‐responsive dystonia and low homovanillic acid in cerebrospinal fluid who were suspected to suffer from TH deficiency. Analysis of part of the TH promotor showed five homozygous and two heterozygous mutations in the highly conserved cyclic adenosine monophosphate response element. Our data suggest that, if no mutations are found in the coding regions of the gene in patients strongly suspected of TH deficiency, the search for pathogenic mutations should be extended to regulatory promotor elements. Ann Neurol 2007</description><identifier>ISSN: 0364-5134</identifier><identifier>EISSN: 1531-8249</identifier><identifier>DOI: 10.1002/ana.21199</identifier><identifier>PMID: 17696123</identifier><identifier>CODEN: ANNED3</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Biological and medical sciences ; Child ; Child, Preschool ; Cyclic AMP Response Element-Binding Protein - genetics ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Diseases of striated muscles. Neuromuscular diseases ; Dystonia - genetics ; Female ; Genetic Predisposition to Disease - genetics ; Humans ; Infant ; Male ; Medical sciences ; Mutation ; Neurology ; Polymorphism, Single Nucleotide - genetics ; Tyrosine 3-Monooxygenase - genetics</subject><ispartof>Annals of neurology, 2007-10, Vol.62 (4), p.422-426</ispartof><rights>Copyright © 2007 American Neurological Association</rights><rights>2007 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3919-b3777c1e8c8c7170fcf83dd5110a1ebd4ab99aa922a50ce9efcb81ed1fbdaa573</citedby><cites>FETCH-LOGICAL-c3919-b3777c1e8c8c7170fcf83dd5110a1ebd4ab99aa922a50ce9efcb81ed1fbdaa573</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fana.21199$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fana.21199$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1416,27923,27924,45573,45574</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19213991$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17696123$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Verbeek, Marcel M.</creatorcontrib><creatorcontrib>Steenbergen-Spanjers, Gerry C. H.</creatorcontrib><creatorcontrib>Willemsen, Michèl A. A. P.</creatorcontrib><creatorcontrib>Hol, Frans A.</creatorcontrib><creatorcontrib>Smeitink, Jan</creatorcontrib><creatorcontrib>Seeger, Jürgen</creatorcontrib><creatorcontrib>Grattan-Smith, Padraic</creatorcontrib><creatorcontrib>Ryan, Monique M.</creatorcontrib><creatorcontrib>Hoffmann, Georg F.</creatorcontrib><creatorcontrib>Donati, Maria A.</creatorcontrib><creatorcontrib>Blau, Nenad</creatorcontrib><creatorcontrib>Wevers, Ronald A.</creatorcontrib><title>Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene</title><title>Annals of neurology</title><addtitle>Ann Neurol</addtitle><description>Tyrosine hydroxylase (TH) deficiency (OMIM 191290) is one cause of early‐onset dopa‐responsive dystonia. We describe seven cases from five unrelated families with dopa‐responsive dystonia and low homovanillic acid in cerebrospinal fluid who were suspected to suffer from TH deficiency. Analysis of part of the TH promotor showed five homozygous and two heterozygous mutations in the highly conserved cyclic adenosine monophosphate response element. Our data suggest that, if no mutations are found in the coding regions of the gene in patients strongly suspected of TH deficiency, the search for pathogenic mutations should be extended to regulatory promotor elements. Ann Neurol 2007</description><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Cyclic AMP Response Element-Binding Protein - genetics</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>Dystonia - genetics</subject><subject>Female</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Humans</subject><subject>Infant</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Mutation</subject><subject>Neurology</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Tyrosine 3-Monooxygenase - genetics</subject><issn>0364-5134</issn><issn>1531-8249</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10MFu1DAQBmALUdHtwoEXQLmA1ENaj53E8XFVaEHathyKOFoTZ8IaEieNs6J5e0yz0FNPnsP3z1g_Y2-BnwHn4hw9ngkArV-wFeQS0lJk-iVbcVlkaQ4yO2YnIfzknOsC-Ct2DKqIk5Arhtf7CSfX-5A4n0w7SuxsW2cTrMn3wXlKut73w64Pww4nSkYKQ9SUUEsd-Snpm8fYNI8L38312D_MLUbzgzy9ZkcNtoHeHN41-3b56e7ic7q9vfpysdmmVmrQaSWVUhaotKVVoHhjm1LWdQ7AEaiqM6y0RtRCYM4taWpsVQLV0FQ1Yq7kmn1Y9g5jf7-nMJnOBUtti576fTBFmRUii_Ws2ekCbfxxGKkxw-g6HGcD3Pzt08Q-zWOf0b47LN1XHdVP8lBgBO8PAIPFthnRWxeenBYgtYbozhf327U0P3_RbG42_06nS8KFiR7-J3D8ZQolVW6-31yZj1tx9_VyG7fIP1vdndo</recordid><startdate>200710</startdate><enddate>200710</enddate><creator>Verbeek, Marcel M.</creator><creator>Steenbergen-Spanjers, Gerry C. H.</creator><creator>Willemsen, Michèl A. A. P.</creator><creator>Hol, Frans A.</creator><creator>Smeitink, Jan</creator><creator>Seeger, Jürgen</creator><creator>Grattan-Smith, Padraic</creator><creator>Ryan, Monique M.</creator><creator>Hoffmann, Georg F.</creator><creator>Donati, Maria A.</creator><creator>Blau, Nenad</creator><creator>Wevers, Ronald A.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Willey-Liss</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>200710</creationdate><title>Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene</title><author>Verbeek, Marcel M. ; Steenbergen-Spanjers, Gerry C. H. ; Willemsen, Michèl A. A. P. ; Hol, Frans A. ; Smeitink, Jan ; Seeger, Jürgen ; Grattan-Smith, Padraic ; Ryan, Monique M. ; Hoffmann, Georg F. ; Donati, Maria A. ; Blau, Nenad ; Wevers, Ronald A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3919-b3777c1e8c8c7170fcf83dd5110a1ebd4ab99aa922a50ce9efcb81ed1fbdaa573</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Cyclic AMP Response Element-Binding Protein - genetics</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Diseases of striated muscles. 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| subjects | Biological and medical sciences Child Child, Preschool Cyclic AMP Response Element-Binding Protein - genetics Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Diseases of striated muscles. Neuromuscular diseases Dystonia - genetics Female Genetic Predisposition to Disease - genetics Humans Infant Male Medical sciences Mutation Neurology Polymorphism, Single Nucleotide - genetics Tyrosine 3-Monooxygenase - genetics |
| title | Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene |
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