Phenotypic Variability of parkin Mutations in Single Kindred
Identifieur interne : 000100 ( PascalFrancis/Checkpoint ); précédent : 000099; suivant : 000101Phenotypic Variability of parkin Mutations in Single Kindred
Auteurs : Brianada Koentjoro [Australie] ; Jin-Sung Park [Australie] ; Ainhi Duy Ha [Australie] ; Carolyn M. Sue [Australie]Source :
- Movement disorders [ 0885-3185 ] ; 2012.
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- Pascal (Inist)
English descriptors
Abstract
Background: Mutations in parkin have been associated with autosomal recessive early-onset Parkinson's disease (PD). Here, we report on unusual phenotypic variability within a family with mutations in parkin. Methods: The proband and her parents were clinically assessed. Mutation analysis was performed using genomic DNA and complementary DNA. The protein expression of Parkin and Mitofusin 2 was examined by western blotting. Results: The proband was a compound heterozygote with no detectable Parkin and presented with early-onset PD. The father, a single heterozygote with reduced expression of Parkin, had mild loss of arm swing. The mother, who had only very mild rigidity, was unexpectedly found to be a homozygote with no Parkin expression. The proband, but not the parents, met the Queen Square Brain Bank criteria for PD. Parkin-dependent ubiquitination of Mitofusin 2 was impaired in the mother and the proband. Conclusion: We report the first case of a homozygous mutation carrier in parkin who had no functional protein and only mild signs of parkinsonism in her seventh decade, whereas her daughter developed typical early-onset PD. This family demonstrates phenotypic variability in parkin-related parkinsonism.
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Phenotypic Variability of parkin Mutations in Single Kindred</title><author><name sortKey="Koentjoro, Brianada" sort="Koentjoro, Brianada" uniqKey="Koentjoro B" first="Brianada" last="Koentjoro">Brianada Koentjoro</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and The University of Sydney, St. Leonards</s1><s2>New South Wales</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Park, Jin Sung" sort="Park, Jin Sung" uniqKey="Park J" first="Jin-Sung" last="Park">Jin-Sung Park</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and The University of Sydney, St. Leonards</s1><s2>New South Wales</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Duy Ha, Ainhi" sort="Duy Ha, Ainhi" uniqKey="Duy Ha A" first="Ainhi" last="Duy Ha">Ainhi Duy Ha</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and The University of Sydney, St. Leonards</s1><s2>New South Wales</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M." last="Sue">Carolyn M. Sue</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and The University of Sydney, St. Leonards</s1><s2>New South Wales</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>New South Wales</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Royal North Shore Hospital, St. Leonards</s1><s2>New South Wales</s2><s3>AUS</s3><sZ>4 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">12-0369638</idno><date when="2012">2012</date><idno type="stanalyst">PASCAL 12-0369638 INIST</idno><idno type="RBID">Pascal:12-0369638</idno><idno type="wicri:Area/PascalFrancis/Corpus">000088</idno><idno type="wicri:Area/PascalFrancis/Curation">002C26</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000100</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Phenotypic Variability of parkin Mutations in Single Kindred</title><author><name sortKey="Koentjoro, Brianada" sort="Koentjoro, Brianada" uniqKey="Koentjoro B" first="Brianada" last="Koentjoro">Brianada Koentjoro</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and The University of Sydney, St. Leonards</s1><s2>New South Wales</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Park, Jin Sung" sort="Park, Jin Sung" uniqKey="Park J" first="Jin-Sung" last="Park">Jin-Sung Park</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and The University of Sydney, St. Leonards</s1><s2>New South Wales</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Duy Ha, Ainhi" sort="Duy Ha, Ainhi" uniqKey="Duy Ha A" first="Ainhi" last="Duy Ha">Ainhi Duy Ha</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and The University of Sydney, St. Leonards</s1><s2>New South Wales</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M." last="Sue">Carolyn M. Sue</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and The University of Sydney, St. Leonards</s1><s2>New South Wales</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>New South Wales</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Royal North Shore Hospital, St. Leonards</s1><s2>New South Wales</s2><s3>AUS</s3><sZ>4 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>New South Wales</wicri:noRegion></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></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Mutation</term><term>Nervous system diseases</term><term>Parkin</term><term>Parkinson disease</term><term>Parkinsonism</term><term>Variability</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Maladie de Parkinson</term><term>Parkinsonisme</term><term>Pathologie du système nerveux</term><term>Variabilité</term><term>Parkine</term><term>Mutation</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background: Mutations in parkin have been associated with autosomal recessive early-onset Parkinson's disease (PD). Here, we report on unusual phenotypic variability within a family with mutations in parkin. Methods: The proband and her parents were clinically assessed. Mutation analysis was performed using genomic DNA and complementary DNA. The protein expression of Parkin and Mitofusin 2 was examined by western blotting. Results: The proband was a compound heterozygote with no detectable Parkin and presented with early-onset PD. The father, a single heterozygote with reduced expression of Parkin, had mild loss of arm swing. The mother, who had only very mild rigidity, was unexpectedly found to be a homozygote with no Parkin expression. The proband, but not the parents, met the Queen Square Brain Bank criteria for PD. Parkin-dependent ubiquitination of Mitofusin 2 was impaired in the mother and the proband. Conclusion: We report the first case of a homozygous mutation carrier in parkin who had no functional protein and only mild signs of parkinsonism in her seventh decade, whereas her daughter developed typical early-onset PD. This family demonstrates phenotypic variability in parkin-related parkinsonism.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>27</s2></fA05><fA06><s2>10</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Phenotypic Variability of parkin Mutations in Single Kindred</s1></fA08><fA11 i1="01" i2="1"><s1>KOENTJORO (Brianada)</s1></fA11><fA11 i1="02" i2="1"><s1>PARK (Jin-Sung)</s1></fA11><fA11 i1="03" i2="1"><s1>DUY HA (Ainhi)</s1></fA11><fA11 i1="04" i2="1"><s1>SUE (Carolyn M.)</s1></fA11><fA14 i1="01"><s1>Department of Neurogenetics, Kolling Institute of Medical Research, Royal North Shore Hospital and The University of Sydney, St. Leonards</s1><s2>New South Wales</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ></fA14><fA14 i1="02"><s1>Department of Neurology, Royal North Shore Hospital, St. Leonards</s1><s2>New South Wales</s2><s3>AUS</s3><sZ>4 aut.</sZ></fA14><fA20><s1>1299-1303</s1></fA20><fA21><s1>2012</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000502011860190</s5></fA43><fA44><s0>0000</s0><s1>© 2012 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>30 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>12-0369638</s0></fA47><fA60><s1>P</s1><s3>CC</s3></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>Background: Mutations in parkin have been associated with autosomal recessive early-onset Parkinson's disease (PD). Here, we report on unusual phenotypic variability within a family with mutations in parkin. Methods: The proband and her parents were clinically assessed. Mutation analysis was performed using genomic DNA and complementary DNA. The protein expression of Parkin and Mitofusin 2 was examined by western blotting. Results: The proband was a compound heterozygote with no detectable Parkin and presented with early-onset PD. The father, a single heterozygote with reduced expression of Parkin, had mild loss of arm swing. The mother, who had only very mild rigidity, was unexpectedly found to be a homozygote with no Parkin expression. The proband, but not the parents, met the Queen Square Brain Bank criteria for PD. Parkin-dependent ubiquitination of Mitofusin 2 was impaired in the mother and the proband. Conclusion: We report the first case of a homozygous mutation carrier in parkin who had no functional protein and only mild signs of parkinsonism in her seventh decade, whereas her daughter developed typical early-onset PD. 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