JankovicV1, PubMed, Corpus, bibRecord, 000184

Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations.

Identifieur interne : 000184 ( PubMed/Corpus ); précédent : 000183; suivant : 000185

Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations.

Auteurs : Hao Deng ; Wei Le ; Christine. Hunter ; William. Ondo ; Yi Guo ; Wen Xie ; Joseph Jankovic

Source :

Archives of neurology [ 0003-9942 ] ; 2006.

RBID : pubmed:16476817

English descriptors

KwdEn :
- Adult, Age of Onset, Aged, DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Parkinson Disease (genetics), Pedigree, Phenotype, Reverse Transcriptase Polymerase Chain Reaction, Sequence Analysis, DNA, Ubiquitin-Protein Ligases (genetics).
MESH :
- chemical , genetics : Ubiquitin-Protein Ligases.
- genetics : Parkinson Disease.
- Adult, Age of Onset, Aged, DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Pedigree, Phenotype, Reverse Transcriptase Polymerase Chain Reaction, Sequence Analysis, DNA.

Abstract

Mutations in the parkin gene (PRKN) cause autosomal recessive early-onset Parkinson disease (EOPD).

DOI: 10.1001/archneur.63.2.273
PubMed: 16476817

Links to Exploration step

pubmed:16476817

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations.</title>
<author><name sortKey="Deng, Hao" sort="Deng, Hao" uniqKey="Deng H" first="Hao" last="Deng">Hao Deng</name>
<affiliation><nlm:affiliation>Department of Neurology, Baylor College of Medicine, Houston, Tex 77030, USA.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Le, Wei Dong" sort="Le, Wei Dong" uniqKey="Le W" first="Wei" last="Le">Wei Le</name>
</author>
<author><name sortKey="Hunter, Christine B" sort="Hunter, Christine B" uniqKey="Hunter C" first="Christine" last="Hunter">Christine. Hunter</name>
</author>
<author><name sortKey="Ondo, William G" sort="Ondo, William G" uniqKey="Ondo W" first="William" last="Ondo">William. Ondo</name>
</author>
<author><name sortKey="Guo, Yi" sort="Guo, Yi" uniqKey="Guo Y" first="Yi" last="Guo">Yi Guo</name>
</author>
<author><name sortKey="Xie, Wen Jie" sort="Xie, Wen Jie" uniqKey="Xie W" first="Wen" last="Xie">Wen Xie</name>
</author>
<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2006">2006</date>
<idno type="doi">10.1001/archneur.63.2.273</idno>
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<idno type="pmid">16476817</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations.</title>
<author><name sortKey="Deng, Hao" sort="Deng, Hao" uniqKey="Deng H" first="Hao" last="Deng">Hao Deng</name>
<affiliation><nlm:affiliation>Department of Neurology, Baylor College of Medicine, Houston, Tex 77030, USA.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Le, Wei Dong" sort="Le, Wei Dong" uniqKey="Le W" first="Wei" last="Le">Wei Le</name>
</author>
<author><name sortKey="Hunter, Christine B" sort="Hunter, Christine B" uniqKey="Hunter C" first="Christine" last="Hunter">Christine. Hunter</name>
</author>
<author><name sortKey="Ondo, William G" sort="Ondo, William G" uniqKey="Ondo W" first="William" last="Ondo">William. Ondo</name>
</author>
<author><name sortKey="Guo, Yi" sort="Guo, Yi" uniqKey="Guo Y" first="Yi" last="Guo">Yi Guo</name>
</author>
<author><name sortKey="Xie, Wen Jie" sort="Xie, Wen Jie" uniqKey="Xie W" first="Wen" last="Xie">Wen Xie</name>
</author>
<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
</author>
</analytic>
<series><title level="j">Archives of neurology</title>
<idno type="ISSN">0003-9942</idno>
<imprint><date when="2006" type="published">2006</date>
</imprint>
</series>
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</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Parkinson Disease (genetics)</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Reverse Transcriptase Polymerase Chain Reaction</term>
<term>Sequence Analysis, DNA</term>
<term>Ubiquitin-Protein Ligases (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ubiquitin-Protein Ligases</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Age of Onset</term>
<term>Aged</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Genetic Predisposition to Disease</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Reverse Transcriptase Polymerase Chain Reaction</term>
<term>Sequence Analysis, DNA</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Mutations in the parkin gene (PRKN) cause autosomal recessive early-onset Parkinson disease (EOPD).</div>
</front>
</TEI>
<pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">16476817</PMID>
<DateCreated><Year>2006</Year>
<Month>02</Month>
<Day>14</Day>
</DateCreated>
<DateCompleted><Year>2006</Year>
<Month>02</Month>
<Day>28</Day>
</DateCompleted>
<DateRevised><Year>2007</Year>
<Month>11</Month>
<Day>14</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0003-9942</ISSN>
<JournalIssue CitedMedium="Print"><Volume>63</Volume>
<Issue>2</Issue>
<PubDate><Year>2006</Year>
<Month>Feb</Month>
</PubDate>
</JournalIssue>
<Title>Archives of neurology</Title>
<ISOAbbreviation>Arch. Neurol.</ISOAbbreviation>
</Journal>
<ArticleTitle>Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations.</ArticleTitle>
<Pagination><MedlinePgn>273-7</MedlinePgn>
</Pagination>
<Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Mutations in the parkin gene (PRKN) cause autosomal recessive early-onset Parkinson disease (EOPD).</AbstractText>
<AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">To investigate the presence of mutations in the PRKN gene in a white family with EOPD and the genotype-phenotype correlations.</AbstractText>
<AbstractText Label="DESIGN" NlmCategory="METHODS">Twenty members belonging to 3 generations of the EOPD family with 4 affected subjects underwent genetic analysis. Direct genomic DNA sequencing, semiquantitative polymerase chain reaction, real-time quantitative polymerase chain reaction, and reverse-transcriptase polymerase chain reaction analyses were performed to identify the PRKN mutation.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">Compound heterozygous mutations (T240M and EX 5_6 del) in the PRKN gene were identified in 4 patients with early onset (at ages 30-38 years). Although heterozygous T240M and homozygous EX 5_6 del mutations in the PRKN gene have been previously described, this is, to our knowledge, the first report of these mutations in compound heterozygotes. The phenotype of patients was that of classic autosomal recessive EOPD characterized by beneficial response to levodopa, relatively slow progression, and motor complications. All heterozygous mutation carriers (T240M or EX 5_6 del) and a 56-year-old woman who was a compound heterozygous mutation carrier (T240M and EX 5_6 del) were free of any neurological symptoms.</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Compound heterozygous mutations (T240M and EX 5_6 del) in the PRKN gene were found to cause autosomal recessive EOPD in 4 members of a large white family. One additional member with the same mutation, who is more than 10 years older than the mean age at onset of the 4 affected individuals, had no clinical manifestation of the disease. This incomplete penetrance has implications for genetic counseling, and it suggests that complex gene-environment interactions may play a role in the pathogenesis of PRKN EOPD.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Deng</LastName>
<ForeName>Hao</ForeName>
<Initials>H</Initials>
<AffiliationInfo><Affiliation>Department of Neurology, Baylor College of Medicine, Houston, Tex 77030, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Le</LastName>
<ForeName>Wei-Dong</ForeName>
<Initials>WD</Initials>
</Author>
<Author ValidYN="Y"><LastName>Hunter</LastName>
<ForeName>Christine B</ForeName>
<Initials>CB</Initials>
</Author>
<Author ValidYN="Y"><LastName>Ondo</LastName>
<ForeName>William G</ForeName>
<Initials>WG</Initials>
</Author>
<Author ValidYN="Y"><LastName>Guo</LastName>
<ForeName>Yi</ForeName>
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<Author ValidYN="Y"><LastName>Xie</LastName>
<ForeName>Wen-Jie</ForeName>
<Initials>WJ</Initials>
</Author>
<Author ValidYN="Y"><LastName>Jankovic</LastName>
<ForeName>Joseph</ForeName>
<Initials>J</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<GrantList CompleteYN="Y"><Grant><GrantID>NS 043567</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
</Grant>
<Grant><GrantID>NS 40370</GrantID>
<Acronym>NS</Acronym>
<Agency>NINDS NIH HHS</Agency>
<Country>United States</Country>
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<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType>
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<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Arch Neurol</MedlineTA>
<NlmUniqueID>0372436</NlmUniqueID>
<ISSNLinking>0003-9942</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber>
<NameOfSubstance UI="D044767">Ubiquitin-Protein Ligases</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 6.3.2.19</RegistryNumber>
<NameOfSubstance UI="C111567">parkin protein</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>AIM</CitationSubset>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D017668">Age of Onset</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020022">Genetic Predisposition to Disease</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020133">Reverse Transcriptase Polymerase Chain Reaction</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D017422">Sequence Analysis, DNA</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D044767">Ubiquitin-Protein Ligases</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2006</Year>
<Month>2</Month>
<Day>16</Day>
<Hour>9</Hour>
<Minute>0</Minute>
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<ArticleIdList><ArticleId IdType="pii">63/2/273</ArticleId>
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Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations.

Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki