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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the <italic>MED12</italic> gene</title><author><name sortKey="Schwartz, Charles E" sort="Schwartz, Charles E" uniqKey="Schwartz C" first="Charles E" last="Schwartz">Charles E. Schwartz</name></author><author><name sortKey="Tarpey, Patrick S" sort="Tarpey, Patrick S" uniqKey="Tarpey P" first="Patrick S" last="Tarpey">Patrick S. Tarpey</name></author><author><name sortKey="Lubs, Herbert A" sort="Lubs, Herbert A" uniqKey="Lubs H" first="Herbert A" last="Lubs">Herbert A. Lubs</name></author><author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name></author><author><name sortKey="May, Melanie M" sort="May, Melanie M" uniqKey="May M" first="Melanie M" last="May">Melanie M. May</name></author><author><name sortKey="Risheg, Hiba" sort="Risheg, Hiba" uniqKey="Risheg H" first="Hiba" last="Risheg">Hiba Risheg</name></author><author><name sortKey="Friez, Michael J" sort="Friez, Michael J" uniqKey="Friez M" first="Michael J" last="Friez">Michael J. Friez</name></author><author><name sortKey="Futreal, P Andrew" sort="Futreal, P Andrew" uniqKey="Futreal P" first="P Andrew" last="Futreal">P Andrew Futreal</name></author><author><name sortKey="Edkins, Sarah" sort="Edkins, Sarah" uniqKey="Edkins S" first="Sarah" last="Edkins">Sarah Edkins</name></author><author><name sortKey="Teague, Jon" sort="Teague, Jon" uniqKey="Teague J" first="Jon" last="Teague">Jon Teague</name></author><author><name sortKey="Briault, Sylvain" sort="Briault, Sylvain" uniqKey="Briault S" first="Sylvain" last="Briault">Sylvain Briault</name></author><author><name sortKey="Skinner, Cindy" sort="Skinner, Cindy" uniqKey="Skinner C" first="Cindy" last="Skinner">Cindy Skinner</name></author><author><name sortKey="Bauer Arlin, Astrid" sort="Bauer Arlin, Astrid" uniqKey="Bauer Arlin A" first="Astrid" last="Bauer-Carlin">Astrid Bauer-Carlin</name></author><author><name sortKey="Simensen, Richard J" sort="Simensen, Richard J" uniqKey="Simensen R" first="Richard J" last="Simensen">Richard J. Simensen</name></author><author><name sortKey="Joseph, Sumy M" sort="Joseph, Sumy M" uniqKey="Joseph S" first="Sumy M" last="Joseph">Sumy M. Joseph</name></author><author><name sortKey="Jones, Julie R" sort="Jones, Julie R" uniqKey="Jones J" first="Julie R" last="Jones">Julie R. Jones</name></author><author><name sortKey="Gecz, Josef" sort="Gecz, Josef" uniqKey="Gecz J" first="Josef" last="Gecz">Josef Gecz</name></author><author><name sortKey="Stratton, Michael R" sort="Stratton, Michael R" uniqKey="Stratton M" first="Michael R" last="Stratton">Michael R. Stratton</name></author><author><name sortKey="Raymond, F Lucy" sort="Raymond, F Lucy" uniqKey="Raymond F" first="F Lucy" last="Raymond">F Lucy Raymond</name></author><author><name sortKey="Stevenson, Roger E" sort="Stevenson, Roger E" uniqKey="Stevenson R" first="Roger E" last="Stevenson">Roger E. Stevenson</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">17369503</idno><idno type="pmc">2597996</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2597996</idno><idno type="RBID">PMC:2597996</idno><idno type="doi">10.1136/jmg.2006.048637</idno><date when="2007">2007</date><idno type="wicri:Area/Pmc/Corpus">000F25</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000F25</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the <italic>MED12</italic> gene</title><author><name sortKey="Schwartz, Charles E" sort="Schwartz, Charles E" uniqKey="Schwartz C" first="Charles E" last="Schwartz">Charles E. Schwartz</name></author><author><name sortKey="Tarpey, Patrick S" sort="Tarpey, Patrick S" uniqKey="Tarpey P" first="Patrick S" last="Tarpey">Patrick S. Tarpey</name></author><author><name sortKey="Lubs, Herbert A" sort="Lubs, Herbert A" uniqKey="Lubs H" first="Herbert A" last="Lubs">Herbert A. Lubs</name></author><author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name></author><author><name sortKey="May, Melanie M" sort="May, Melanie M" uniqKey="May M" first="Melanie M" last="May">Melanie M. May</name></author><author><name sortKey="Risheg, Hiba" sort="Risheg, Hiba" uniqKey="Risheg H" first="Hiba" last="Risheg">Hiba Risheg</name></author><author><name sortKey="Friez, Michael J" sort="Friez, Michael J" uniqKey="Friez M" first="Michael J" last="Friez">Michael J. Friez</name></author><author><name sortKey="Futreal, P Andrew" sort="Futreal, P Andrew" uniqKey="Futreal P" first="P Andrew" last="Futreal">P Andrew Futreal</name></author><author><name sortKey="Edkins, Sarah" sort="Edkins, Sarah" uniqKey="Edkins S" first="Sarah" last="Edkins">Sarah Edkins</name></author><author><name sortKey="Teague, Jon" sort="Teague, Jon" uniqKey="Teague J" first="Jon" last="Teague">Jon Teague</name></author><author><name sortKey="Briault, Sylvain" sort="Briault, Sylvain" uniqKey="Briault S" first="Sylvain" last="Briault">Sylvain Briault</name></author><author><name sortKey="Skinner, Cindy" sort="Skinner, Cindy" uniqKey="Skinner C" first="Cindy" last="Skinner">Cindy Skinner</name></author><author><name sortKey="Bauer Arlin, Astrid" sort="Bauer Arlin, Astrid" uniqKey="Bauer Arlin A" first="Astrid" last="Bauer-Carlin">Astrid Bauer-Carlin</name></author><author><name sortKey="Simensen, Richard J" sort="Simensen, Richard J" uniqKey="Simensen R" first="Richard J" last="Simensen">Richard J. Simensen</name></author><author><name sortKey="Joseph, Sumy M" sort="Joseph, Sumy M" uniqKey="Joseph S" first="Sumy M" last="Joseph">Sumy M. Joseph</name></author><author><name sortKey="Jones, Julie R" sort="Jones, Julie R" uniqKey="Jones J" first="Julie R" last="Jones">Julie R. Jones</name></author><author><name sortKey="Gecz, Josef" sort="Gecz, Josef" uniqKey="Gecz J" first="Josef" last="Gecz">Josef Gecz</name></author><author><name sortKey="Stratton, Michael R" sort="Stratton, Michael R" uniqKey="Stratton M" first="Michael R" last="Stratton">Michael R. Stratton</name></author><author><name sortKey="Raymond, F Lucy" sort="Raymond, F Lucy" uniqKey="Raymond F" first="F Lucy" last="Raymond">F Lucy Raymond</name></author><author><name sortKey="Stevenson, Roger E" sort="Stevenson, Roger E" uniqKey="Stevenson R" first="Roger E" last="Stevenson">Roger E. Stevenson</name></author></analytic><series><title level="j">Journal of Medical Genetics</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><date when="2007">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>A novel missense mutation in the mediator of RNA polymerase II transcription subunit 12 (<italic>MED12</italic>) gene has been found in the original family with Lujan syndrome and in a second family (K9359) that was initially considered to have Opitz–Kaveggia (FG) syndrome. A different missense mutation in the <italic>MED12</italic> gene has been reported previously in the original family with FG syndrome and in five other families with compatible clinical findings. Neither sequence alteration has been found in over 1400 control X chromosomes. Lujan (Lujan–Fryns) syndrome is characterised by tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate with dental crowding, a small or receding chin, long hands with hyperextensible digits, hypernasal speech, hypotonia, mild‐to‐moderate mental retardation, behavioural aberrations and dysgenesis of the corpus callosum. Although Lujan syndrome has not been previously considered to be in the differential diagnosis of FG syndrome, there are some overlapping clinical manifestations. Specifically, these are dysgenesis of the corpus callosum, macrocephaly/relative macrocephaly, a tall forehead, hypotonia, mental retardation and behavioural disturbances. Thus, it seems that these two X‐linked mental retardation syndromes are allelic, with mutations in the <italic>MED12</italic> gene.</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">J Med Genet</journal-id><journal-title>Journal of Medical Genetics</journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn><publisher><publisher-name>BMJ Group</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">17369503</article-id><article-id pub-id-type="pmc">2597996</article-id><article-id pub-id-type="publisher-id">mg48637</article-id><article-id pub-id-type="doi">10.1136/jmg.2006.048637</article-id><article-categories><subj-group subj-group-type="heading"><subject>Letter to JMG</subject></subj-group></article-categories><title-group><article-title>The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the <italic>MED12</italic> gene</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Schwartz</surname><given-names>Charles E</given-names></name></contrib><contrib contrib-type="author"><name><surname>Tarpey</surname><given-names>Patrick S</given-names></name></contrib><contrib contrib-type="author"><name><surname>Lubs</surname><given-names>Herbert A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Verloes</surname><given-names>Alain</given-names></name></contrib><contrib contrib-type="author"><name><surname>May</surname><given-names>Melanie M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Risheg</surname><given-names>Hiba</given-names></name></contrib><contrib contrib-type="author"><name><surname>Friez</surname><given-names>Michael J</given-names></name></contrib><contrib contrib-type="author"><name><surname>Futreal</surname><given-names>P Andrew</given-names></name></contrib><contrib contrib-type="author"><name><surname>Edkins</surname><given-names>Sarah</given-names></name></contrib><contrib contrib-type="author"><name><surname>Teague</surname><given-names>Jon</given-names></name></contrib><contrib contrib-type="author"><name><surname>Briault</surname><given-names>Sylvain</given-names></name></contrib><contrib contrib-type="author"><name><surname>Skinner</surname><given-names>Cindy</given-names></name></contrib><contrib contrib-type="author"><name><surname>Bauer‐Carlin</surname><given-names>Astrid</given-names></name></contrib><contrib contrib-type="author"><name><surname>Simensen</surname><given-names>Richard J</given-names></name></contrib><contrib contrib-type="author"><name><surname>Joseph</surname><given-names>Sumy M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Jones</surname><given-names>Julie R</given-names></name></contrib><contrib contrib-type="author"><name><surname>Gecz</surname><given-names>Josef</given-names></name></contrib><contrib contrib-type="author"><name><surname>Stratton</surname><given-names>Michael R</given-names></name></contrib><contrib contrib-type="author"><name><surname>Raymond</surname><given-names>F Lucy</given-names></name></contrib><contrib contrib-type="author"><name><surname>Stevenson</surname><given-names>Roger E</given-names></name></contrib></contrib-group><aff><bold>Charles E Schwartz</bold>,<bold>Herbert A Lubs</bold>,<bold>Melanie M May</bold>,<bold>Hiba Risheg</bold>,<bold>Michael J Friez</bold>,<bold>Cindy Skinner</bold>,<bold>Astrid Bauer‐Carlin</bold>,<bold>Richard J Simensen</bold>,<bold>Sumy M Joseph</bold>,<bold>Julie R Jones</bold>,<bold>Roger E Stevenson</bold>, JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA</aff><aff><bold>Patrick S Tarpey</bold>,<bold>P Andrew Futreal</bold>,<bold>Sarah Edkins</bold>,<bold>Jon Teague</bold>,<bold>Michael R Stratton</bold>, Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton, UK</aff><aff><bold>Alain Verloes</bold>, Department of Genetics, Clinical Genetics Unit, Robert Debre University Hospital, Serurier, France</aff><aff><bold>Sylvain Briault</bold>, Laboratoire de Génétique Chromosomique, Centre Hospitalier Régional d'Orléans, Orléans, France</aff><aff><bold>Josef Gecz</bold>, Departments of Paediatrics and Molecular Biosciences, University of Adelaide, Adelaide, Australia</aff><aff><bold>F Lucy Raymond</bold>, Cambridge Institute of Medical Research, University of Cambridge, Addenbrookes Hospital, Cambridge, UK</aff><author-notes><corresp>Correspondence to: Dr R E Stevenson<break></break>JC Self Research Institute of Human Genetics, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA; res@ggc.org</corresp></author-notes><pub-date pub-type="ppub"><month>7</month><year>2007</year></pub-date><pub-date pub-type="epub"><day>16</day><month>3</month><year>2007</year></pub-date><volume>44</volume><issue>7</issue><fpage>472</fpage><lpage>477</lpage><history><date date-type="received"><day>20</day><month>12</month><year>2006</year></date><date date-type="rev-recd"><day>23</day><month>2</month><year>2007</year></date><date date-type="accepted"><day>27</day><month>2</month><year>2007</year></date></history><permissions><copyright-statement>Copyright © 2007 BMJ Publishing Group Ltd</copyright-statement></permissions><abstract><p>A novel missense mutation in the mediator of RNA polymerase II transcription subunit 12 (<italic>MED12</italic>) gene has been found in the original family with Lujan syndrome and in a second family (K9359) that was initially considered to have Opitz–Kaveggia (FG) syndrome. A different missense mutation in the <italic>MED12</italic> gene has been reported previously in the original family with FG syndrome and in five other families with compatible clinical findings. Neither sequence alteration has been found in over 1400 control X chromosomes. Lujan (Lujan–Fryns) syndrome is characterised by tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate with dental crowding, a small or receding chin, long hands with hyperextensible digits, hypernasal speech, hypotonia, mild‐to‐moderate mental retardation, behavioural aberrations and dysgenesis of the corpus callosum. Although Lujan syndrome has not been previously considered to be in the differential diagnosis of FG syndrome, there are some overlapping clinical manifestations. Specifically, these are dysgenesis of the corpus callosum, macrocephaly/relative macrocephaly, a tall forehead, hypotonia, mental retardation and behavioural disturbances. Thus, it seems that these two X‐linked mental retardation syndromes are allelic, with mutations in the <italic>MED12</italic> gene.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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