MovDisordV3, Main, Exploration, bibRecord, 001014

Pseudo-heterozygous Rearrangement Mutation of parkin

Identifieur interne : 001014 ( Main/Exploration ); précédent : 001013; suivant : 001015

Pseudo-heterozygous Rearrangement Mutation of parkin

Auteurs : Manabu Funayama [Japon] ; Hiroyo Yoshino [Japon] ; YUANZHE LI [Japon] ; Hiromichi Kusaka [Japon] ; Hiroyuki Tomiyama [Japon] ; Nobutaka Hattori [Japon]

Source :

Movement disorders [ 0885-3185 ] ; 2012.

RBID : Pascal:12-0183685

Descripteurs français

Pascal (Inist)
- Maladie de Parkinson, Pathologie du système nerveux, Mutation, Parkine.

English descriptors

KwdEn :
- Mutation, Nervous system diseases, Parkin, Parkinson disease.

Abstract

Background: Mutations in parkin are the most frequent cause of autosomal recessive parkinsonism. Quantitative PCR is used to detect parkin rearrangements. However, the method has an inherent problem-deletion and duplication in the same allelic exon could be determined as normal. To present this misidentification, we report a family with compound heterozygous rearrangements in parkin. Methods: A patient with early-onset parkinsonism and the parents were investigated by quantitative PCR, haplotype analysis, reverse-transcription PCR, and direct sequencing. Results: A single heterozygous duplication (duplication of exons 6-7) was identified in the patient by quantitative PCR. Detailed analysis of the family revealed the patient carried compound heterozygous of combined deletion (deletion of exons 3-5) and duplication (duplication of exons 3-7). Conclusions: For correct determination of rearrangement mutation, mutation analysis of the patient as well as other family members and/or break-point analysis of genomic DNA and at the transcript level should be conducted.

Affiliations:

Japon
Tokyo

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Le document en format XML

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<author><name sortKey="Yuanzhe Li" sort="Yuanzhe Li" uniqKey="Yuanzhe Li" last="Yuanzhe Li">YUANZHE LI</name>
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<author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name>
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<idno type="wicri:Area/Main/Exploration">001014</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Pseudo-heterozygous Rearrangement Mutation of parkin</title>
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<author><name sortKey="Yuanzhe Li" sort="Yuanzhe Li" uniqKey="Yuanzhe Li" last="Yuanzhe Li">YUANZHE LI</name>
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<author><name sortKey="Kusaka, Hiromichi" sort="Kusaka, Hiromichi" uniqKey="Kusaka H" first="Hiromichi" last="Kusaka">Hiromichi Kusaka</name>
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<author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name>
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<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Neuroscience for Neurodegenerative Disorders, Juntendo University School of Medicine</s1>
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<country>Japon</country>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University</s1>
<s2>Tokyo</s2>
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<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurology, Juntendo University School of Medicine</s1>
<s2>Tokyo</s2>
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<country>Japon</country>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Neuroscience for Neurodegenerative Disorders, Juntendo University School of Medicine</s1>
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<s3>JPN</s3>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
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<country>Japon</country>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2012">2012</date>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<idno type="ISSN">0885-3185</idno>
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</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Mutation</term>
<term>Nervous system diseases</term>
<term>Parkin</term>
<term>Parkinson disease</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term>
<term>Pathologie du   système nerveux</term>
<term>Mutation</term>
<term>Parkine</term>
</keywords>
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<front><div type="abstract" xml:lang="en">Background: Mutations in parkin are the most frequent cause of autosomal recessive parkinsonism. Quantitative PCR is used to detect parkin rearrangements. However, the method has an inherent problem-deletion and duplication in the same allelic exon could be determined as normal. To present this misidentification, we report a family with compound heterozygous rearrangements in parkin. Methods: A patient with early-onset parkinsonism and the parents were investigated by quantitative PCR, haplotype analysis, reverse-transcription PCR, and direct sequencing. Results: A single heterozygous duplication (duplication of exons 6-7) was identified in the patient by quantitative PCR. Detailed analysis of the family revealed the patient carried compound heterozygous of combined deletion (deletion of exons 3-5) and duplication (duplication of exons 3-7). Conclusions: For correct determination of rearrangement mutation, mutation analysis of the patient as well as other family members and/or break-point analysis of genomic DNA and at the transcript level should be conducted.</div>
</front>
</TEI>
<affiliations><list><country><li>Japon</li>
</country>
<settlement><li>Tokyo</li>
</settlement>
</list>
<tree><country name="Japon"><noRegion><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
</noRegion>
<name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
<name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<name sortKey="Kusaka, Hiromichi" sort="Kusaka, Hiromichi" uniqKey="Kusaka H" first="Hiromichi" last="Kusaka">Hiromichi Kusaka</name>
<name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name>
<name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name>
<name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name>
<name sortKey="Yuanzhe Li" sort="Yuanzhe Li" uniqKey="Yuanzhe Li" last="Yuanzhe Li">YUANZHE LI</name>
</country>
</tree>
</affiliations>
</record>

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Movement Disorders (revue)

Pseudo-heterozygous Rearrangement Mutation of parkin

Pseudo-heterozygous Rearrangement Mutation of parkin

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri