GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia.
Identifieur interne : 001A03 ( PubMed/Corpus ); précédent : 001A02; suivant : 001A04GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia.
Auteurs : Xin Liu ; Shu-Shan Zhang ; Deng-Fu Fang ; Ming-Yi Ma ; Xiao-Yan Guo ; Yuan Yang ; Hui-Fang ShangSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- Adolescent, Adult, Asian Continental Ancestry Group (genetics), Asian Continental Ancestry Group (statistics & numerical data), Child, Child, Preschool, DNA Mutational Analysis, DNA Primers (genetics), Dopamine Agonists (administration & dosage), Dopamine Agonists (therapeutic use), Dystonia (drug therapy), Dystonia (ethnology), Dystonia (genetics), Exons (genetics), Female, GTP Cyclohydrolase (genetics), Humans, Infant, Levodopa (administration & dosage), Levodopa (therapeutic use), Male, Pedigree, Point Mutation (genetics), Polymerase Chain Reaction, Young Adult.
- MESH :
- chemical , administration & dosage : Dopamine Agonists, Levodopa.
- chemical , genetics : DNA Primers, GTP Cyclohydrolase.
- drug therapy : Dystonia.
- ethnology : Dystonia.
- genetics : Asian Continental Ancestry Group, Dystonia, Exons, Point Mutation.
- statistics & numerical data : Asian Continental Ancestry Group.
- chemical , therapeutic use : Dopamine Agonists, Levodopa.
- Adolescent, Adult, Child, Child, Preschool, DNA Mutational Analysis, Female, Humans, Infant, Male, Pedigree, Polymerase Chain Reaction, Young Adult.
Abstract
Dopa-responsive dystonia (DRD) is typically caused by heterozygous mutations in GTP cyclohydrolase 1 gene (GCH1). Our aim was to investigate the clinical and genetic features of Chinese DRD patients. We analyzed a cohort of Chinese DRD patients' clinical data. Mutation of the GCH1 gene was screened by direct sequencing. Additionally, multiplex ligation-dependent probe amplification (MLPA) assay targeting the GCH1 and the TH gene to evaluate large exon deletion or duplicate mutation of the genes were performed in point mutation-negative patients. Ten sporadic DRD patients and two pedigrees including six patients were included in the study. The onset age ranged from 3 to 15 years old. All patients initially presented with walking problems due to lower limb dystonia. The delay between onset and diagnosis ranged from 1 to 42 years old. The symptoms were completely or near-completely abolished with low dose levodopa treatment (dosages ranged from 25 mg to 400 mg/day). Direct sequencing in 14 patients found two known mutations (Gly203Arg in exon 5 in four unrelated patients and Met102Lys in exon 1 in one patient) and one new mutation (Thr186Ile mutation in exon 5 in two unrelated pedigrees). A heterozygous exon 2 deletion in the GCH1 gene was found in one of three point mutation-negative patients by MLPA analysis. Our clinical findings in DRD patients were consistent with other studies. GCH1 gene mutations were quite common in Chinese patients. MPLA should be performed in routine deletion analysis of GCH1 in point mutation-negative DRD patients.
DOI: 10.1002/mds.22976
PubMed: 20108370
Links to Exploration step
pubmed:20108370Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia.</title><author><name sortKey="Liu, Xin" sort="Liu, Xin" uniqKey="Liu X" first="Xin" last="Liu">Xin Liu</name><affiliation><nlm:affiliation>Department of Neurology, West China Hospital, SiChuan University, Sichuan, China.</nlm:affiliation></affiliation></author><author><name sortKey="Zhang, Shu Shan" sort="Zhang, Shu Shan" uniqKey="Zhang S" first="Shu-Shan" last="Zhang">Shu-Shan Zhang</name></author><author><name sortKey="Fang, Deng Fu" sort="Fang, Deng Fu" uniqKey="Fang D" first="Deng-Fu" last="Fang">Deng-Fu Fang</name></author><author><name sortKey="Ma, Ming Yi" sort="Ma, Ming Yi" uniqKey="Ma M" first="Ming-Yi" last="Ma">Ming-Yi Ma</name></author><author><name sortKey="Guo, Xiao Yan" sort="Guo, Xiao Yan" uniqKey="Guo X" first="Xiao-Yan" last="Guo">Xiao-Yan Guo</name></author><author><name sortKey="Yang, Yuan" sort="Yang, Yuan" uniqKey="Yang Y" first="Yuan" last="Yang">Yuan Yang</name></author><author><name sortKey="Shang, Hui Fang" sort="Shang, Hui Fang" uniqKey="Shang H" first="Hui-Fang" last="Shang">Hui-Fang Shang</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2010">2010</date><idno type="doi">10.1002/mds.22976</idno><idno type="RBID">pubmed:20108370</idno><idno type="pmid">20108370</idno><idno type="wicri:Area/PubMed/Corpus">001A03</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia.</title><author><name sortKey="Liu, Xin" sort="Liu, Xin" uniqKey="Liu X" first="Xin" last="Liu">Xin Liu</name><affiliation><nlm:affiliation>Department of Neurology, West China Hospital, SiChuan University, Sichuan, China.</nlm:affiliation></affiliation></author><author><name sortKey="Zhang, Shu Shan" sort="Zhang, Shu Shan" uniqKey="Zhang S" first="Shu-Shan" last="Zhang">Shu-Shan Zhang</name></author><author><name sortKey="Fang, Deng Fu" sort="Fang, Deng Fu" uniqKey="Fang D" first="Deng-Fu" last="Fang">Deng-Fu Fang</name></author><author><name sortKey="Ma, Ming Yi" sort="Ma, Ming Yi" uniqKey="Ma M" first="Ming-Yi" last="Ma">Ming-Yi Ma</name></author><author><name sortKey="Guo, Xiao Yan" sort="Guo, Xiao Yan" uniqKey="Guo X" first="Xiao-Yan" last="Guo">Xiao-Yan Guo</name></author><author><name sortKey="Yang, Yuan" sort="Yang, Yuan" uniqKey="Yang Y" first="Yuan" last="Yang">Yuan Yang</name></author><author><name sortKey="Shang, Hui Fang" sort="Shang, Hui Fang" uniqKey="Shang H" first="Hui-Fang" last="Shang">Hui-Fang Shang</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Asian Continental Ancestry Group (genetics)</term><term>Asian Continental Ancestry Group (statistics & numerical data)</term><term>Child</term><term>Child, Preschool</term><term>DNA Mutational Analysis</term><term>DNA Primers (genetics)</term><term>Dopamine Agonists (administration & dosage)</term><term>Dopamine Agonists (therapeutic use)</term><term>Dystonia (drug therapy)</term><term>Dystonia (ethnology)</term><term>Dystonia (genetics)</term><term>Exons (genetics)</term><term>Female</term><term>GTP Cyclohydrolase (genetics)</term><term>Humans</term><term>Infant</term><term>Levodopa (administration & dosage)</term><term>Levodopa (therapeutic use)</term><term>Male</term><term>Pedigree</term><term>Point Mutation (genetics)</term><term>Polymerase Chain Reaction</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="administration & dosage" xml:lang="en"><term>Dopamine Agonists</term><term>Levodopa</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA Primers</term><term>GTP Cyclohydrolase</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Dystonia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Asian Continental Ancestry Group</term><term>Dystonia</term><term>Exons</term><term>Point Mutation</term></keywords><keywords scheme="MESH" qualifier="statistics & numerical data" xml:lang="en"><term>Asian Continental Ancestry Group</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Dopamine Agonists</term><term>Levodopa</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>DNA Mutational Analysis</term><term>Female</term><term>Humans</term><term>Infant</term><term>Male</term><term>Pedigree</term><term>Polymerase Chain Reaction</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Dopa-responsive dystonia (DRD) is typically caused by heterozygous mutations in GTP cyclohydrolase 1 gene (GCH1). Our aim was to investigate the clinical and genetic features of Chinese DRD patients. We analyzed a cohort of Chinese DRD patients' clinical data. Mutation of the GCH1 gene was screened by direct sequencing. Additionally, multiplex ligation-dependent probe amplification (MLPA) assay targeting the GCH1 and the TH gene to evaluate large exon deletion or duplicate mutation of the genes were performed in point mutation-negative patients. Ten sporadic DRD patients and two pedigrees including six patients were included in the study. The onset age ranged from 3 to 15 years old. All patients initially presented with walking problems due to lower limb dystonia. The delay between onset and diagnosis ranged from 1 to 42 years old. The symptoms were completely or near-completely abolished with low dose levodopa treatment (dosages ranged from 25 mg to 400 mg/day). Direct sequencing in 14 patients found two known mutations (Gly203Arg in exon 5 in four unrelated patients and Met102Lys in exon 1 in one patient) and one new mutation (Thr186Ile mutation in exon 5 in two unrelated pedigrees). A heterozygous exon 2 deletion in the GCH1 gene was found in one of three point mutation-negative patients by MLPA analysis. Our clinical findings in DRD patients were consistent with other studies. GCH1 gene mutations were quite common in Chinese patients. MPLA should be performed in routine deletion analysis of GCH1 in point mutation-negative DRD patients.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">20108370</PMID><DateCreated><Year>2010</Year><Month>03</Month><Day>23</Day></DateCreated><DateCompleted><Year>2010</Year><Month>08</Month><Day>10</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>25</Volume><Issue>4</Issue><PubDate><Year>2010</Year><Month>Mar</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia.</ArticleTitle><Pagination><MedlinePgn>447-51</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22976</ELocationID><Abstract><AbstractText>Dopa-responsive dystonia (DRD) is typically caused by heterozygous mutations in GTP cyclohydrolase 1 gene (GCH1). Our aim was to investigate the clinical and genetic features of Chinese DRD patients. We analyzed a cohort of Chinese DRD patients' clinical data. Mutation of the GCH1 gene was screened by direct sequencing. Additionally, multiplex ligation-dependent probe amplification (MLPA) assay targeting the GCH1 and the TH gene to evaluate large exon deletion or duplicate mutation of the genes were performed in point mutation-negative patients. Ten sporadic DRD patients and two pedigrees including six patients were included in the study. The onset age ranged from 3 to 15 years old. All patients initially presented with walking problems due to lower limb dystonia. The delay between onset and diagnosis ranged from 1 to 42 years old. The symptoms were completely or near-completely abolished with low dose levodopa treatment (dosages ranged from 25 mg to 400 mg/day). Direct sequencing in 14 patients found two known mutations (Gly203Arg in exon 5 in four unrelated patients and Met102Lys in exon 1 in one patient) and one new mutation (Thr186Ile mutation in exon 5 in two unrelated pedigrees). A heterozygous exon 2 deletion in the GCH1 gene was found in one of three point mutation-negative patients by MLPA analysis. Our clinical findings in DRD patients were consistent with other studies. GCH1 gene mutations were quite common in Chinese patients. MPLA should be performed in routine deletion analysis of GCH1 in point mutation-negative DRD patients.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Liu</LastName><ForeName>Xin</ForeName><Initials>X</Initials><AffiliationInfo><Affiliation>Department of Neurology, West China Hospital, SiChuan University, Sichuan, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zhang</LastName><ForeName>Shu-Shan</ForeName><Initials>SS</Initials></Author><Author ValidYN="Y"><LastName>Fang</LastName><ForeName>Deng-Fu</ForeName><Initials>DF</Initials></Author><Author ValidYN="Y"><LastName>Ma</LastName><ForeName>Ming-Yi</ForeName><Initials>MY</Initials></Author><Author ValidYN="Y"><LastName>Guo</LastName><ForeName>Xiao-Yan</ForeName><Initials>XY</Initials></Author><Author ValidYN="Y"><LastName>Yang</LastName><ForeName>Yuan</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Shang</LastName><ForeName>Hui-Fang</ForeName><Initials>HF</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016430">Clinical Trial</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D017931">DNA Primers</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D018491">Dopamine Agonists</NameOfSubstance></Chemical><Chemical><RegistryNumber>46627O600J</RegistryNumber><NameOfSubstance UI="D007980">Levodopa</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.5.4.16</RegistryNumber><NameOfSubstance UI="D006136">GTP Cyclohydrolase</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D044466">Asian Continental Ancestry Group</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000706">statistics & numerical data</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002675">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName 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UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016133">Polymerase Chain Reaction</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>1</Month><Day>29</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>1</Month><Day>29</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2010</Year><Month>8</Month><Day>11</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22976</ArticleId><ArticleId IdType="pubmed">20108370</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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