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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus</title><author><name sortKey="Bolk, Stacey" sort="Bolk, Stacey" uniqKey="Bolk S" first="Stacey" last="Bolk">Stacey Bolk</name><affiliation><nlm:aff id="N0x98f5110.0x9f74468">Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland OH 44106;</nlm:aff></affiliation></author><author><name sortKey="Pelet, Anna" sort="Pelet, Anna" uniqKey="Pelet A" first="Anna" last="Pelet">Anna Pelet</name><affiliation><nlm:aff id="N0x98f5110.0x9f74468">Department of Genetics and Unite Institut National de la Santé et de la Recherche Médicale, U-393, Hopital des Enfants Malades, 75743 Paris, France;</nlm:aff></affiliation></author><author><name sortKey="Hofstra, Robert M W" sort="Hofstra, Robert M W" uniqKey="Hofstra R" first="Robert M. W." last="Hofstra">Robert M. W. Hofstra</name><affiliation><nlm:aff wicri:cut="; and" id="N0x98f5110.0x9f74468">Department of Medical Genetics, University of Groningen, Groningen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Angrist, Misha" sort="Angrist, Misha" uniqKey="Angrist M" first="Misha" last="Angrist">Misha Angrist</name><affiliation><nlm:aff id="N0x98f5110.0x9f74468">Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland OH 44106;</nlm:aff></affiliation></author><author><name sortKey="Salomon, Remi" sort="Salomon, Remi" uniqKey="Salomon R" first="Remi" last="Salomon">Remi Salomon</name><affiliation><nlm:aff id="N0x98f5110.0x9f74468">Department of Genetics and Unite Institut National de la Santé et de la Recherche Médicale, U-393, Hopital des Enfants Malades, 75743 Paris, France;</nlm:aff></affiliation></author><author><name sortKey="Croaker, David" sort="Croaker, David" uniqKey="Croaker D" first="David" last="Croaker">David Croaker</name><affiliation><nlm:aff id="N0x98f5110.0x9f74468">Department of Surgical Research, New Children's Hospital, Westmead, Australia</nlm:aff></affiliation></author><author><name sortKey="Buys, Charles H C M" sort="Buys, Charles H C M" uniqKey="Buys C" first="Charles H. C. M." last="Buys">Charles H. C. M. Buys</name><affiliation><nlm:aff wicri:cut="; and" id="N0x98f5110.0x9f74468">Department of Medical Genetics, University of Groningen, Groningen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name><affiliation><nlm:aff id="N0x98f5110.0x9f74468">Department of Genetics and Unite Institut National de la Santé et de la Recherche Médicale, U-393, Hopital des Enfants Malades, 75743 Paris, France;</nlm:aff></affiliation></author><author><name sortKey="Chakravarti, Aravinda" sort="Chakravarti, Aravinda" uniqKey="Chakravarti A" first="Aravinda" last="Chakravarti">Aravinda Chakravarti</name><affiliation><nlm:aff id="N0x98f5110.0x9f74468">Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland OH 44106;</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">10618407</idno><idno type="pmc">26652</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC26652</idno><idno type="RBID">PMC:26652</idno><date when="2000">2000</date><idno type="wicri:Area/Pmc/Corpus">000A23</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000A23</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus</title><author><name sortKey="Bolk, Stacey" sort="Bolk, Stacey" uniqKey="Bolk S" first="Stacey" last="Bolk">Stacey Bolk</name><affiliation><nlm:aff id="N0x98f5110.0x9f74468">Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland OH 44106;</nlm:aff></affiliation></author><author><name sortKey="Pelet, Anna" sort="Pelet, Anna" uniqKey="Pelet A" first="Anna" last="Pelet">Anna Pelet</name><affiliation><nlm:aff id="N0x98f5110.0x9f74468">Department of Genetics and Unite Institut National de la Santé et de la Recherche Médicale, U-393, Hopital des Enfants Malades, 75743 Paris, France;</nlm:aff></affiliation></author><author><name sortKey="Hofstra, Robert M W" sort="Hofstra, Robert M W" uniqKey="Hofstra R" first="Robert M. W." last="Hofstra">Robert M. W. Hofstra</name><affiliation><nlm:aff wicri:cut="; and" id="N0x98f5110.0x9f74468">Department of Medical Genetics, University of Groningen, Groningen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Angrist, Misha" sort="Angrist, Misha" uniqKey="Angrist M" first="Misha" last="Angrist">Misha Angrist</name><affiliation><nlm:aff id="N0x98f5110.0x9f74468">Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland OH 44106;</nlm:aff></affiliation></author><author><name sortKey="Salomon, Remi" sort="Salomon, Remi" uniqKey="Salomon R" first="Remi" last="Salomon">Remi Salomon</name><affiliation><nlm:aff id="N0x98f5110.0x9f74468">Department of Genetics and Unite Institut National de la Santé et de la Recherche Médicale, U-393, Hopital des Enfants Malades, 75743 Paris, France;</nlm:aff></affiliation></author><author><name sortKey="Croaker, David" sort="Croaker, David" uniqKey="Croaker D" first="David" last="Croaker">David Croaker</name><affiliation><nlm:aff id="N0x98f5110.0x9f74468">Department of Surgical Research, New Children's Hospital, Westmead, Australia</nlm:aff></affiliation></author><author><name sortKey="Buys, Charles H C M" sort="Buys, Charles H C M" uniqKey="Buys C" first="Charles H. C. M." last="Buys">Charles H. C. M. Buys</name><affiliation><nlm:aff wicri:cut="; and" id="N0x98f5110.0x9f74468">Department of Medical Genetics, University of Groningen, Groningen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name><affiliation><nlm:aff id="N0x98f5110.0x9f74468">Department of Genetics and Unite Institut National de la Santé et de la Recherche Médicale, U-393, Hopital des Enfants Malades, 75743 Paris, France;</nlm:aff></affiliation></author><author><name sortKey="Chakravarti, Aravinda" sort="Chakravarti, Aravinda" uniqKey="Chakravarti A" first="Aravinda" last="Chakravarti">Aravinda Chakravarti</name><affiliation><nlm:aff id="N0x98f5110.0x9f74468">Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland OH 44106;</nlm:aff></affiliation></author></analytic><series><title level="j">Proceedings of the National Academy of Sciences of the United States of America</title><idno type="ISSN">0027-8424</idno><idno type="eISSN">1091-6490</idno><imprint><date when="2000">2000</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance with ≈50% of familial cases being heterozygous for mutations in the receptor tyrosine kinase <italic>RET</italic>. Even when identified, the penetrance of <italic>RET</italic> mutations is only 50–70%, gender-dependent, and varies with the extent of aganglionosis. We searched for additional susceptibility genes which, in conjunction with <italic>RET</italic>, lead to phenotypic expression by studying 12 multiplex HSCR families. Haplotype analysis and extensive mutation screening demonstrated three types of families: six families harboring severe <italic>RET</italic> mutations (group I); and the six remaining families, five of which are <italic>RET</italic>-linked families with no sequence alterations and one <italic>RET</italic>-unlinked family (group II). Although the presence of <italic>RET</italic> mutations in group I families is sufficient to explain HSCR inheritance, a genome scan reveals a new susceptibility locus on 9q31 exclusively in group II families. As such, the gene at 9q31 is a modifier of HSCR penetrance. These observations imply that identification of new susceptibility factors in a complex disease may depend on classification of families by mutational type at known susceptibility genes.</p></div></front></TEI><pmc article-type="research-article"><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">Proc Natl Acad Sci U S A</journal-id><journal-id journal-id-type="publisher-id">PNAS</journal-id><journal-title>Proceedings of the National Academy of Sciences of the United States of America</journal-title><issn pub-type="ppub">0027-8424</issn><issn pub-type="epub">1091-6490</issn><publisher><publisher-name>The National Academy of Sciences</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">10618407</article-id><article-id pub-id-type="pmc">26652</article-id><article-id pub-id-type="publisher-id">4432</article-id><article-categories><subj-group subj-group-type="heading"><subject>Biological Sciences</subject><subj-group><subject>Genetics</subject></subj-group></subj-group></article-categories><title-group><article-title>A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Bolk</surname><given-names>Stacey</given-names></name><xref ref-type="aff" rid="N0x98f5110.0x9f74468">*</xref></contrib><contrib contrib-type="author"><name><surname>Pelet</surname><given-names>Anna</given-names></name><xref ref-type="aff" rid="N0x98f5110.0x9f74468">†</xref></contrib><contrib contrib-type="author"><name><surname>Hofstra</surname><given-names>Robert M. W.</given-names></name><xref ref-type="aff" rid="N0x98f5110.0x9f74468">‡</xref></contrib><contrib contrib-type="author"><name><surname>Angrist</surname><given-names>Misha</given-names></name><xref ref-type="aff" rid="N0x98f5110.0x9f74468">*</xref></contrib><contrib contrib-type="author"><name><surname>Salomon</surname><given-names>Remi</given-names></name><xref ref-type="aff" rid="N0x98f5110.0x9f74468">†</xref></contrib><contrib contrib-type="author"><name><surname>Croaker</surname><given-names>David</given-names></name><xref ref-type="aff" rid="N0x98f5110.0x9f74468">§</xref></contrib><contrib contrib-type="author"><name><surname>Buys</surname><given-names>Charles H. C. M.</given-names></name><xref ref-type="aff" rid="N0x98f5110.0x9f74468">‡</xref></contrib><contrib contrib-type="author"><name><surname>Lyonnet</surname><given-names>Stanislas</given-names></name><xref ref-type="aff" rid="N0x98f5110.0x9f74468">†</xref></contrib><contrib contrib-type="author"><name><surname>Chakravarti</surname><given-names>Aravinda</given-names></name><xref ref-type="aff" rid="N0x98f5110.0x9f74468">*</xref><xref ref-type="author-notes" rid="FN154">¶</xref></contrib></contrib-group><aff id="N0x98f5110.0x9f74468"><label>*</label>Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland OH 44106;<label>†</label>Department of Genetics and Unite Institut National de la Santé et de la Recherche Médicale, U-393, Hopital des Enfants Malades, 75743 Paris, France;<label>‡</label>Department of Medical Genetics, University of Groningen, Groningen, The Netherlands; and<label>§</label>Department of Surgical Research, New Children's Hospital, Westmead, Australia</aff><author-notes><fn id="FN154"><label>¶</label><p>To whom reprint requests should be addressed at: Department of Genetics BRB 721, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106-4955. E-mail: <email>axc39@po.cwru.edu</email>.</p></fn><fn><p>Communicated by Victor A. McKusick, Johns Hopkins University School of Medicine, Baltimore, MD</p></fn></author-notes><pub-date pub-type="ppub"><day>4</day><month>1</month><year>2000</year></pub-date><volume>97</volume><issue>1</issue><fpage>268</fpage><lpage>273</lpage><history><date date-type="received"><day>10</day><month>5</month><year>1999</year></date><date date-type="accepted"><day>14</day><month>10</month><year>1999</year></date></history><copyright-statement>Copyright © 2000, The National Academy of Sciences</copyright-statement><copyright-year>2000</copyright-year><abstract><p>Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance with ≈50% of familial cases being heterozygous for mutations in the receptor tyrosine kinase <italic>RET</italic>. Even when identified, the penetrance of <italic>RET</italic> mutations is only 50–70%, gender-dependent, and varies with the extent of aganglionosis. We searched for additional susceptibility genes which, in conjunction with <italic>RET</italic>, lead to phenotypic expression by studying 12 multiplex HSCR families. Haplotype analysis and extensive mutation screening demonstrated three types of families: six families harboring severe <italic>RET</italic> mutations (group I); and the six remaining families, five of which are <italic>RET</italic>-linked families with no sequence alterations and one <italic>RET</italic>-unlinked family (group II). Although the presence of <italic>RET</italic> mutations in group I families is sufficient to explain HSCR inheritance, a genome scan reveals a new susceptibility locus on 9q31 exclusively in group II families. As such, the gene at 9q31 is a modifier of HSCR penetrance. These observations imply that identification of new susceptibility factors in a complex disease may depend on classification of families by mutational type at known susceptibility genes.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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