A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease.
Identifieur interne : 000B40 ( PubMed/Curation ); précédent : 000B39; suivant : 000B41A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease.
Auteurs : Cécile Cazeneuve [France] ; Channkanira Sân ; Salah A. Ibrahim ; Maowia M. Mukhtar ; Musa M. Kheir ; Eric Leguern ; Alexis Brice ; Mustafa A. SalihSource :
- Neurogenetics [ 1364-6753 ] ; 2009.
Descripteurs français
- Wicri :
- geographic : Soudan.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Protein Kinases.
- geographic : Sudan.
- genetics : Parkinson Disease.
- Adolescent, Adult, Age of Onset, Base Sequence, Child, DNA Mutational Analysis, Female, Gene Rearrangement, Humans, Male, Molecular Sequence Data, Mutation, Young Adult.
Abstract
PARK2 and PINK1 gene mutations are involved in recessive early onset Parkinson's disease (EOPD). In order to determine the causative mutations in three affected sibs from a consanguineous Sudanese family with EOPD, multiplex ligation-dependent probe amplification was performed and revealed that the patients were homozygous for a deletion of PINK1 exons 4 to 8. Breakpoint analysis revealed a complex rearrangement combining a large deletion and the insertion of a sequence duplicated from the DDOST gene intron 2, located near the PINK1 gene. As breakpoint sequences displayed only three base pairs of homology, this rearrangement may result from Fork Stalling and Template Switching mechanism. This third large rearrangement of PINK1 enlarges the mutation spectrum and, together with recent published data in Tunisian patients with EOPD, points out that PINK1 gene analysis, including search for large rearrangement, should be considered in early onset recessive PD patients, particularly those from Arab origin.
DOI: 10.1007/s10048-009-0174-4
PubMed: 19214605
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Ibrahim</name></author><author><name sortKey="Mukhtar, Maowia M" sort="Mukhtar, Maowia M" uniqKey="Mukhtar M" first="Maowia M" last="Mukhtar">Maowia M. Mukhtar</name></author><author><name sortKey="Kheir, Musa M" sort="Kheir, Musa M" uniqKey="Kheir M" first="Musa M" last="Kheir">Musa M. Kheir</name></author><author><name sortKey="Leguern, Eric" sort="Leguern, Eric" uniqKey="Leguern E" first="Eric" last="Leguern">Eric Leguern</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Salih, Mustafa A" sort="Salih, Mustafa A" uniqKey="Salih M" first="Mustafa A" last="Salih">Mustafa A. 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Ibrahim</name></author><author><name sortKey="Mukhtar, Maowia M" sort="Mukhtar, Maowia M" uniqKey="Mukhtar M" first="Maowia M" last="Mukhtar">Maowia M. Mukhtar</name></author><author><name sortKey="Kheir, Musa M" sort="Kheir, Musa M" uniqKey="Kheir M" first="Musa M" last="Kheir">Musa M. Kheir</name></author><author><name sortKey="Leguern, Eric" sort="Leguern, Eric" uniqKey="Leguern E" first="Eric" last="Leguern">Eric Leguern</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Salih, Mustafa A" sort="Salih, Mustafa A" uniqKey="Salih M" first="Mustafa A" last="Salih">Mustafa A. Salih</name></author></analytic><series><title level="j">Neurogenetics</title><idno type="eISSN">1364-6753</idno><imprint><date when="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Base Sequence</term><term>Child</term><term>DNA Mutational Analysis</term><term>Female</term><term>Gene Rearrangement</term><term>Humans</term><term>Male</term><term>Molecular Sequence Data</term><term>Mutation</term><term>Parkinson Disease (genetics)</term><term>Protein Kinases (genetics)</term><term>Sudan</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein Kinases</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Sudan</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Base Sequence</term><term>Child</term><term>DNA Mutational Analysis</term><term>Female</term><term>Gene Rearrangement</term><term>Humans</term><term>Male</term><term>Molecular Sequence Data</term><term>Mutation</term><term>Young Adult</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Soudan</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">PARK2 and PINK1 gene mutations are involved in recessive early onset Parkinson's disease (EOPD). In order to determine the causative mutations in three affected sibs from a consanguineous Sudanese family with EOPD, multiplex ligation-dependent probe amplification was performed and revealed that the patients were homozygous for a deletion of PINK1 exons 4 to 8. Breakpoint analysis revealed a complex rearrangement combining a large deletion and the insertion of a sequence duplicated from the DDOST gene intron 2, located near the PINK1 gene. As breakpoint sequences displayed only three base pairs of homology, this rearrangement may result from Fork Stalling and Template Switching mechanism. This third large rearrangement of PINK1 enlarges the mutation spectrum and, together with recent published data in Tunisian patients with EOPD, points out that PINK1 gene analysis, including search for large rearrangement, should be considered in early onset recessive PD patients, particularly those from Arab origin.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">19214605</PMID><DateCreated><Year>2009</Year><Month>06</Month><Day>10</Day></DateCreated><DateCompleted><Year>2009</Year><Month>09</Month><Day>16</Day></DateCompleted><DateRevised><Year>2012</Year><Month>06</Month><Day>19</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1364-6753</ISSN><JournalIssue CitedMedium="Internet"><Volume>10</Volume><Issue>3</Issue><PubDate><Year>2009</Year><Month>Jul</Month></PubDate></JournalIssue><Title>Neurogenetics</Title><ISOAbbreviation>Neurogenetics</ISOAbbreviation></Journal><ArticleTitle>A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease.</ArticleTitle><Pagination><MedlinePgn>265-70</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1007/s10048-009-0174-4</ELocationID><Abstract><AbstractText>PARK2 and PINK1 gene mutations are involved in recessive early onset Parkinson's disease (EOPD). In order to determine the causative mutations in three affected sibs from a consanguineous Sudanese family with EOPD, multiplex ligation-dependent probe amplification was performed and revealed that the patients were homozygous for a deletion of PINK1 exons 4 to 8. Breakpoint analysis revealed a complex rearrangement combining a large deletion and the insertion of a sequence duplicated from the DDOST gene intron 2, located near the PINK1 gene. As breakpoint sequences displayed only three base pairs of homology, this rearrangement may result from Fork Stalling and Template Switching mechanism. This third large rearrangement of PINK1 enlarges the mutation spectrum and, together with recent published data in Tunisian patients with EOPD, points out that PINK1 gene analysis, including search for large rearrangement, should be considered in early onset recessive PD patients, particularly those from Arab origin.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Cazeneuve</LastName><ForeName>Cécile</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Département de Génétique et Cytogénétique, U.F. de Neurogénétique, Assistance Publique Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Paris, France. cecile.cazeneuve@psl.aphp.fr</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sân</LastName><ForeName>Channkanira</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Ibrahim</LastName><ForeName>Salah A</ForeName><Initials>SA</Initials></Author><Author ValidYN="Y"><LastName>Mukhtar</LastName><ForeName>Maowia M</ForeName><Initials>MM</Initials></Author><Author ValidYN="Y"><LastName>Kheir</LastName><ForeName>Musa M</ForeName><Initials>MM</Initials></Author><Author ValidYN="Y"><LastName>Leguern</LastName><ForeName>Eric</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>Alexis</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Salih</LastName><ForeName>Mustafa A</ForeName><Initials>MA</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2009</Year><Month>02</Month><Day>12</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Neurogenetics</MedlineTA><NlmUniqueID>9709714</NlmUniqueID><ISSNLinking>1364-6745</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 2.7.-</RegistryNumber><NameOfSubstance UI="D011494">Protein Kinases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="C433927">PTEN-induced putative kinase</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017668" MajorTopicYN="N">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001483" MajorTopicYN="N">Base Sequence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015321" MajorTopicYN="Y">Gene Rearrangement</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008969" MajorTopicYN="N">Molecular Sequence Data</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D011494" MajorTopicYN="N">Protein Kinases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D013397" MajorTopicYN="N" Type="Geographic">Sudan</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2008</Year><Month>11</Month><Day>27</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2009</Year><Month>01</Month><Day>15</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2009</Year><Month>2</Month><Day>14</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2009</Year><Month>2</Month><Day>14</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2009</Year><Month>9</Month><Day>17</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">19214605</ArticleId><ArticleId IdType="doi">10.1007/s10048-009-0174-4</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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