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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Transcription Factor <italic>SOX3</italic> Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency</title><author><name sortKey="Laumonnier, Frederic" sort="Laumonnier, Frederic" uniqKey="Laumonnier F" first="Frédéric" last="Laumonnier">Frédéric Laumonnier</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Ronce, Nathalie" sort="Ronce, Nathalie" uniqKey="Ronce N" first="Nathalie" last="Ronce">Nathalie Ronce</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Hamel, Ben C J" sort="Hamel, Ben C J" uniqKey="Hamel B" first="Ben C. J." last="Hamel">Ben C. J. Hamel</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Thomas, Paul" sort="Thomas, Paul" uniqKey="Thomas P" first="Paul" last="Thomas">Paul Thomas</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Lespinasse, James" sort="Lespinasse, James" uniqKey="Lespinasse J" first="James" last="Lespinasse">James Lespinasse</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Paringaux, Christine" sort="Paringaux, Christine" uniqKey="Paringaux C" first="Christine" last="Paringaux">Christine Paringaux</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Kalscheuer, Vera" sort="Kalscheuer, Vera" uniqKey="Kalscheuer V" first="Vera" last="Kalscheuer">Vera Kalscheuer</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Briault, Sylvain" sort="Briault, Sylvain" uniqKey="Briault S" first="Sylvain" last="Briault">Sylvain Briault</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">12428212</idno><idno type="pmc">420004</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC420004</idno><idno type="RBID">PMC:420004</idno><date when="2002">2002</date><idno type="wicri:Area/Pmc/Corpus">000005</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000005</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Transcription Factor <italic>SOX3</italic> Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency</title><author><name sortKey="Laumonnier, Frederic" sort="Laumonnier, Frederic" uniqKey="Laumonnier F" first="Frédéric" last="Laumonnier">Frédéric Laumonnier</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Ronce, Nathalie" sort="Ronce, Nathalie" uniqKey="Ronce N" first="Nathalie" last="Ronce">Nathalie Ronce</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Hamel, Ben C J" sort="Hamel, Ben C J" uniqKey="Hamel B" first="Ben C. J." last="Hamel">Ben C. J. Hamel</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Thomas, Paul" sort="Thomas, Paul" uniqKey="Thomas P" first="Paul" last="Thomas">Paul Thomas</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Lespinasse, James" sort="Lespinasse, James" uniqKey="Lespinasse J" first="James" last="Lespinasse">James Lespinasse</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Paringaux, Christine" sort="Paringaux, Christine" uniqKey="Paringaux C" first="Christine" last="Paringaux">Christine Paringaux</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Kalscheuer, Vera" sort="Kalscheuer, Vera" uniqKey="Kalscheuer V" first="Vera" last="Kalscheuer">Vera Kalscheuer</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></nlm:aff></affiliation></author><author><name sortKey="Briault, Sylvain" sort="Briault, Sylvain" uniqKey="Briault S" first="Sylvain" last="Briault">Sylvain Briault</name><affiliation><nlm:aff id="N0x8c0a2a0.0x8c5bda0"></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>Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q27]) in a female patient with mild mental retardation revealed localization of the Xp breakpoint in the <italic>IL1RAPL</italic> gene at Xp21.3 and the Xq breakpoint near the <italic>SOX3</italic> gene (SRY [<underline>s</underline>ex determining <underline>r</underline>egion <underline>Y</underline>]–box 3) (<xref rid="RF2" ref-type="bibr">GenBank</xref> accession number NM_005634) at Xq26.3. Because carrier females with microdeletion in the <italic>IL1RAPL</italic> gene do not present any abnormal phenotype, we focused on the Xq breakpoint. However, we were unable to confirm the involvement of <italic>SOX3</italic> in the mental retardation in this female patient. To validate <italic>SOX3</italic> as an X-linked mental retardation (XLMR) gene, we performed mutation analyses in families with XLMR whose causative gene mapped to Xq26-q27. We show here that the <italic>SOX3</italic> gene is involved in a large family in which affected individuals have mental retardation and growth hormone deficiency. The mutation results in an in-frame duplication of 33 bp encoding for 11 alanines in a polyalanine tract of the <italic>SOX3</italic> gene. The expression pattern during neural and pituitary development suggests that dysfunction of the SOX3 protein caused by the polyalanine expansion might disturb transcription pathways and the regulation of genes involved in cellular processes and functions required for cognitive and pituitary development.</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">12428212</article-id><article-id pub-id-type="pmc">420004</article-id><article-id pub-id-type="publisher-id">024316</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>Transcription Factor <italic>SOX3</italic> Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency</article-title><alt-title>SOX3 Mutation in XLMR with GHD</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Laumonnier</surname><given-names>Frédéric</given-names></name><xref ref-type="aff" rid="N0x8c0a2a0.0x8c5bda0">1</xref></contrib><contrib contrib-type="author"><name><surname>Ronce</surname><given-names>Nathalie</given-names></name><xref ref-type="aff" rid="N0x8c0a2a0.0x8c5bda0">1</xref></contrib><contrib contrib-type="author"><name><surname>Hamel</surname><given-names>Ben C. J.</given-names></name><xref ref-type="aff" rid="N0x8c0a2a0.0x8c5bda0">3</xref></contrib><contrib contrib-type="author"><name><surname>Thomas</surname><given-names>Paul</given-names></name><xref ref-type="aff" rid="N0x8c0a2a0.0x8c5bda0">4</xref></contrib><contrib contrib-type="author"><name><surname>Lespinasse</surname><given-names>James</given-names></name><xref ref-type="aff" rid="N0x8c0a2a0.0x8c5bda0">5</xref></contrib><contrib contrib-type="author"><name><surname>Raynaud</surname><given-names>Martine</given-names></name><xref ref-type="aff" rid="N0x8c0a2a0.0x8c5bda0">1</xref></contrib><contrib contrib-type="author"><name><surname>Paringaux</surname><given-names>Christine</given-names></name><xref ref-type="aff" rid="N0x8c0a2a0.0x8c5bda0">1, 2</xref></contrib><contrib contrib-type="author"><name><surname>van Bokhoven</surname><given-names>Hans</given-names></name><xref ref-type="aff" rid="N0x8c0a2a0.0x8c5bda0">3</xref></contrib><contrib contrib-type="author"><name><surname>Kalscheuer</surname><given-names>Vera</given-names></name><xref ref-type="aff" rid="N0x8c0a2a0.0x8c5bda0">6</xref></contrib><contrib contrib-type="author"><name><surname>Fryns</surname><given-names>Jean-Pierre</given-names></name><xref ref-type="aff" rid="N0x8c0a2a0.0x8c5bda0">7</xref></contrib><contrib contrib-type="author"><name><surname>Chelly</surname><given-names>Jamel</given-names></name><xref ref-type="aff" rid="N0x8c0a2a0.0x8c5bda0">8</xref></contrib><contrib contrib-type="author"><name><surname>Moraine</surname><given-names>Claude</given-names></name><xref ref-type="aff" rid="N0x8c0a2a0.0x8c5bda0">1</xref></contrib><contrib contrib-type="author"><name><surname>Briault</surname><given-names>Sylvain</given-names></name><xref ref-type="aff" rid="N0x8c0a2a0.0x8c5bda0">1</xref></contrib></contrib-group><aff id="N0x8c0a2a0.0x8c5bda0">Services de<sup>1</sup>Génétique- and<sup>2</sup>Pédopsychiatrie-INSERM U316, CHU Bretonneau, Tours, France;<sup>3</sup>Department of Human Genetics, University Hospital, Nijmegen, The Netherlands;<sup>4</sup>Murdoch Children's Research Institute, Royal Children’s Hospital, Melbourne, Victoria, Australia;<sup>5</sup>Laboratoire de Génétique Chromosomique, CH Chambéry, France;<sup>6</sup>Max Planck Institue for Molekulare Genetik, Berlin;<sup>7</sup>Center for Human Genetics, Leuven, Belgium; and<sup>8</sup>Institut Cochin-CHU Cochin Port-Royal, Paris</aff><author-notes><corresp>Address for correspondence and reprints: Dr. Sylvain Briault, Service de Genetique-INSERM U316, CHU Bretonneau, 37044 Tours cedex 1, France. E-mail: <email>briault@med.univ-tours.fr</email></corresp></author-notes><pub-date pub-type="ppub"><month>12</month><year>2002</year></pub-date><pub-date pub-type="epub"><day>8</day><month>11</month><year>2002</year></pub-date><volume>71</volume><issue>6</issue><fpage>1450</fpage><lpage>1455</lpage><history><date date-type="received"><day>24</day><month>7</month><year>2002</year></date><date date-type="accepted"><day>4</day><month>9</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>12428212</self-uri><abstract><p>Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q27]) in a female patient with mild mental retardation revealed localization of the Xp breakpoint in the <italic>IL1RAPL</italic> gene at Xp21.3 and the Xq breakpoint near the <italic>SOX3</italic> gene (SRY [<underline>s</underline>ex determining <underline>r</underline>egion <underline>Y</underline>]–box 3) (<xref rid="RF2" ref-type="bibr">GenBank</xref> accession number NM_005634) at Xq26.3. Because carrier females with microdeletion in the <italic>IL1RAPL</italic> gene do not present any abnormal phenotype, we focused on the Xq breakpoint. However, we were unable to confirm the involvement of <italic>SOX3</italic> in the mental retardation in this female patient. To validate <italic>SOX3</italic> as an X-linked mental retardation (XLMR) gene, we performed mutation analyses in families with XLMR whose causative gene mapped to Xq26-q27. We show here that the <italic>SOX3</italic> gene is involved in a large family in which affected individuals have mental retardation and growth hormone deficiency. The mutation results in an in-frame duplication of 33 bp encoding for 11 alanines in a polyalanine tract of the <italic>SOX3</italic> gene. The expression pattern during neural and pituitary development suggests that dysfunction of the SOX3 protein caused by the polyalanine expansion might disturb transcription pathways and the regulation of genes involved in cellular processes and functions required for cognitive and pituitary development.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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