A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28
Identifieur interne : 000004 ( Pmc/Corpus ); précédent : 000003; suivant : 000005A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28
Auteurs : Laurent Villard ; Karine Nguyen ; Carlos Cardoso ; Christa Lese Martin ; Ann M. Weiss ; Mara Sifry-Platt ; Arthur W. Grix ; John M. Graham Jr. ; Robin M. Winter ; Richard J. Leventer ; William B. DobynsSource :
- American Journal of Human Genetics [ 0002-9297 ] ; 2002.
Abstract
Polymicrogyria (PMG) is one of a large group of human cortical malformations that collectively account for a significant percentage of patients with epilepsy, congenital neurological deficits, and intellectual disability. PMG is characterized by an excess of small gyri and abnormal cortical lamination. The most common distribution is bilateral, symmetrical, and maximal, in the region surrounding the sylvian fissures, and is known as “bilateral perisylvian polymicrogyria” (BPP). Most cases are sporadic, although several families have been observed with multiple affected members, usually following an X-linked inheritance pattern. Here we report the first genetic locus for BPP mapped by linkage analysis in five families. Linkage places the critical region for BPP at Xq28 (LOD score 3.08 in Xq28, distal to DXS8103 by multipoint analysis). We suggest that this region contains a gene that is necessary for correct neuronal organization and that the identification of this gene will both enhance our understanding of normal cortical development and accelerate the identification of other genes responsible for PMG.
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PubMed: 11822025
PubMed Central: 379093
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28</title><author><name sortKey="Villard, Laurent" sort="Villard, Laurent" uniqKey="Villard L" first="Laurent" last="Villard">Laurent Villard</name><affiliation><nlm:aff id="N0x976e480.0x9690720">INSERM U491, Faculté de Médecine la Timone, Marseille, France; Departments of</nlm:aff></affiliation></author><author><name sortKey="Nguyen, Karine" sort="Nguyen, Karine" uniqKey="Nguyen K" first="Karine" last="Nguyen">Karine Nguyen</name><affiliation><nlm:aff id="N0x976e480.0x9690720">INSERM U491, Faculté de Médecine la Timone, Marseille, France; Departments of</nlm:aff></affiliation></author><author><name sortKey="Cardoso, Carlos" sort="Cardoso, Carlos" uniqKey="Cardoso C" first="Carlos" last="Cardoso">Carlos Cardoso</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Martin, Christa Lese" sort="Martin, Christa Lese" uniqKey="Martin C" first="Christa Lese" last="Martin">Christa Lese Martin</name><affiliation><nlm:aff id="N0x976e480.0x9690720">Human Genetics,</nlm:aff></affiliation></author><author><name sortKey="Weiss, Ann M" sort="Weiss, Ann M" uniqKey="Weiss A" first="Ann M." last="Weiss">Ann M. Weiss</name><affiliation><nlm:aff id="N0x976e480.0x9690720">Human Genetics,</nlm:aff></affiliation></author><author><name sortKey="Sifry Platt, Mara" sort="Sifry Platt, Mara" uniqKey="Sifry Platt M" first="Mara" last="Sifry-Platt">Mara Sifry-Platt</name><affiliation><nlm:aff id="N0x976e480.0x9690720">Department of Medical Genetics, Kaiser-Permanente Point West Medical Offices, Sacramento;</nlm:aff></affiliation></author><author><name sortKey="Grix, Arthur W" sort="Grix, Arthur W" uniqKey="Grix A" first="Arthur W." last="Grix">Arthur W. Grix</name><affiliation><nlm:aff id="N0x976e480.0x9690720">Department of Medical Genetics, Kaiser-Permanente Point West Medical Offices, Sacramento;</nlm:aff></affiliation></author><author><name sortKey="Graham Jr, John M" sort="Graham Jr, John M" uniqKey="Graham Jr J" first="John M." last="Graham Jr.">John M. Graham Jr.</name><affiliation><nlm:aff id="N0x976e480.0x9690720">Medical Genetics and Birth Defects, Cedars-Sinai Medical Center, Los Angeles;</nlm:aff></affiliation></author><author><name sortKey="Winter, Robin M" sort="Winter, Robin M" uniqKey="Winter R" first="Robin M." last="Winter">Robin M. Winter</name><affiliation><nlm:aff wicri:cut="; and" id="N0x976e480.0x9690720">Department of Clinical and Molecular Genetics, Institute for Child Health, London</nlm:aff></affiliation></author><author><name sortKey="Leventer, Richard J" sort="Leventer, Richard J" uniqKey="Leventer R" first="Richard J." last="Leventer">Richard J. Leventer</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">11822025</idno><idno type="pmc">379093</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379093</idno><idno type="RBID">PMC:379093</idno><date when="2002">2002</date><idno type="wicri:Area/Pmc/Corpus">000004</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000004</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28</title><author><name sortKey="Villard, Laurent" sort="Villard, Laurent" uniqKey="Villard L" first="Laurent" last="Villard">Laurent Villard</name><affiliation><nlm:aff id="N0x976e480.0x9690720">INSERM U491, Faculté de Médecine la Timone, Marseille, France; Departments of</nlm:aff></affiliation></author><author><name sortKey="Nguyen, Karine" sort="Nguyen, Karine" uniqKey="Nguyen K" first="Karine" last="Nguyen">Karine Nguyen</name><affiliation><nlm:aff id="N0x976e480.0x9690720">INSERM U491, Faculté de Médecine la Timone, Marseille, France; Departments of</nlm:aff></affiliation></author><author><name sortKey="Cardoso, Carlos" sort="Cardoso, Carlos" uniqKey="Cardoso C" first="Carlos" last="Cardoso">Carlos Cardoso</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Martin, Christa Lese" sort="Martin, Christa Lese" uniqKey="Martin C" first="Christa Lese" last="Martin">Christa Lese Martin</name><affiliation><nlm:aff id="N0x976e480.0x9690720">Human Genetics,</nlm:aff></affiliation></author><author><name sortKey="Weiss, Ann M" sort="Weiss, Ann M" uniqKey="Weiss A" first="Ann M." last="Weiss">Ann M. Weiss</name><affiliation><nlm:aff id="N0x976e480.0x9690720">Human Genetics,</nlm:aff></affiliation></author><author><name sortKey="Sifry Platt, Mara" sort="Sifry Platt, Mara" uniqKey="Sifry Platt M" first="Mara" last="Sifry-Platt">Mara Sifry-Platt</name><affiliation><nlm:aff id="N0x976e480.0x9690720">Department of Medical Genetics, Kaiser-Permanente Point West Medical Offices, Sacramento;</nlm:aff></affiliation></author><author><name sortKey="Grix, Arthur W" sort="Grix, Arthur W" uniqKey="Grix A" first="Arthur W." last="Grix">Arthur W. Grix</name><affiliation><nlm:aff id="N0x976e480.0x9690720">Department of Medical Genetics, Kaiser-Permanente Point West Medical Offices, Sacramento;</nlm:aff></affiliation></author><author><name sortKey="Graham Jr, John M" sort="Graham Jr, John M" uniqKey="Graham Jr J" first="John M." last="Graham Jr.">John M. Graham Jr.</name><affiliation><nlm:aff id="N0x976e480.0x9690720">Medical Genetics and Birth Defects, Cedars-Sinai Medical Center, Los Angeles;</nlm:aff></affiliation></author><author><name sortKey="Winter, Robin M" sort="Winter, Robin M" uniqKey="Winter R" first="Robin M." last="Winter">Robin M. Winter</name><affiliation><nlm:aff wicri:cut="; and" id="N0x976e480.0x9690720">Department of Clinical and Molecular Genetics, Institute for Child Health, London</nlm:aff></affiliation></author><author><name sortKey="Leventer, Richard J" sort="Leventer, Richard J" uniqKey="Leventer R" first="Richard J." last="Leventer">Richard J. Leventer</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2002">2002</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Polymicrogyria (PMG) is one of a large group of human cortical malformations that collectively account for a significant percentage of patients with epilepsy, congenital neurological deficits, and intellectual disability. PMG is characterized by an excess of small gyri and abnormal cortical lamination. The most common distribution is bilateral, symmetrical, and maximal, in the region surrounding the sylvian fissures, and is known as “bilateral perisylvian polymicrogyria” (BPP). Most cases are sporadic, although several families have been observed with multiple affected members, usually following an X-linked inheritance pattern. Here we report the first genetic locus for BPP mapped by linkage analysis in five families. Linkage places the critical region for BPP at Xq28 (LOD score 3.08 in Xq28, distal to DXS8103 by multipoint analysis). We suggest that this region contains a gene that is necessary for correct neuronal organization and that the identification of this gene will both enhance our understanding of normal cortical development and accelerate the identification of other genes responsible for PMG.</p></div></front></TEI><pmc article-type="case-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-id journal-id-type="publisher-id">AJHG</journal-id><journal-title>American Journal of Human Genetics</journal-title><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>The American Society of Human Genetics</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">11822025</article-id><article-id pub-id-type="pmc">379093</article-id><article-id pub-id-type="publisher-id">013532</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28</article-title><alt-title>A Locus for BPP Maps to Xq28</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Villard</surname><given-names>Laurent</given-names></name><xref ref-type="aff" rid="N0x976e480.0x9690720">1</xref></contrib><contrib contrib-type="author"><name><surname>Nguyen</surname><given-names>Karine</given-names></name><xref ref-type="aff" rid="N0x976e480.0x9690720">1</xref></contrib><contrib contrib-type="author"><name><surname>Cardoso</surname><given-names>Carlos</given-names></name><xref ref-type="aff" rid="N0x976e480.0x9690720">1,2</xref></contrib><contrib contrib-type="author"><name><surname>Martin</surname><given-names>Christa Lese</given-names></name><xref ref-type="aff" rid="N0x976e480.0x9690720">2</xref></contrib><contrib contrib-type="author"><name><surname>Weiss</surname><given-names>Ann M.</given-names></name><xref ref-type="aff" rid="N0x976e480.0x9690720">2</xref></contrib><contrib contrib-type="author"><name><surname>Sifry-Platt</surname><given-names>Mara</given-names></name><xref ref-type="aff" rid="N0x976e480.0x9690720">5</xref></contrib><contrib contrib-type="author"><name><surname>Grix</surname><given-names>Arthur W.</given-names></name><xref ref-type="aff" rid="N0x976e480.0x9690720">5</xref></contrib><contrib contrib-type="author"><name><surname>Graham, Jr.</surname><given-names>John M.</given-names></name><xref ref-type="aff" rid="N0x976e480.0x9690720">6</xref></contrib><contrib contrib-type="author"><name><surname>Winter</surname><given-names>Robin M.</given-names></name><xref ref-type="aff" rid="N0x976e480.0x9690720">7</xref></contrib><contrib contrib-type="author"><name><surname>Leventer</surname><given-names>Richard J.</given-names></name><xref ref-type="aff" rid="N0x976e480.0x9690720">2,3,8</xref></contrib><contrib contrib-type="author"><name><surname>Dobyns</surname><given-names>William B.</given-names></name><xref ref-type="aff" rid="N0x976e480.0x9690720">2,3,4</xref></contrib></contrib-group><aff id="N0x976e480.0x9690720"><sup>1</sup>INSERM U491, Faculté de Médecine la Timone, Marseille, France; Departments of<sup>2</sup>Human Genetics,<sup>3</sup>Neurology, and<sup>4</sup>Pediatrics, University of Chicago, Chicago;<sup>5</sup>Department of Medical Genetics, Kaiser-Permanente Point West Medical Offices, Sacramento;<sup>6</sup>Medical Genetics and Birth Defects, Cedars-Sinai Medical Center, Los Angeles;<sup>7</sup>Department of Clinical and Molecular Genetics, Institute for Child Health, London; and<sup>8</sup>Children’s Neuroscience Center and Murdoch Children’s Research Institute, Royal Children's Hospital, Parkville, Melbourne, Australia</aff><author-notes><corresp>Address for correspondence and reprints: Dr. Laurent Villard, INSERM U491, Faculté de Médecine de La Timone, 27 Boulevard Jean Moulin, 13385 Marseille Cedex 5, France. E-mail: <email>laurent.villard@medecine.univ-mrs.fr</email></corresp></author-notes><pub-date pub-type="ppub"><month>4</month><year>2002</year></pub-date><pub-date pub-type="epub"><day>29</day><month>1</month><year>2002</year></pub-date><volume>70</volume><issue>4</issue><fpage>1003</fpage><lpage>1008</lpage><history><date date-type="received"><day>12</day><month>11</month><year>2001</year></date><date date-type="accepted"><day>2</day><month>1</month><year>2002</year></date></history><copyright-statement>© 2002 by The American Society of Human Genetics. All rights reserved.</copyright-statement><copyright-year>2002</copyright-year><self-uri>11822025</self-uri><abstract><p>Polymicrogyria (PMG) is one of a large group of human cortical malformations that collectively account for a significant percentage of patients with epilepsy, congenital neurological deficits, and intellectual disability. PMG is characterized by an excess of small gyri and abnormal cortical lamination. The most common distribution is bilateral, symmetrical, and maximal, in the region surrounding the sylvian fissures, and is known as “bilateral perisylvian polymicrogyria” (BPP). Most cases are sporadic, although several families have been observed with multiple affected members, usually following an X-linked inheritance pattern. Here we report the first genetic locus for BPP mapped by linkage analysis in five families. Linkage places the critical region for BPP at Xq28 (LOD score 3.08 in Xq28, distal to DXS8103 by multipoint analysis). We suggest that this region contains a gene that is necessary for correct neuronal organization and that the identification of this gene will both enhance our understanding of normal cortical development and accelerate the identification of other genes responsible for PMG.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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