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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The phenotype associated with a large deletion on <italic>MECP2</italic></title><author><name sortKey="Bebbington, Ami" sort="Bebbington, Ami" uniqKey="Bebbington A" first="Ami" last="Bebbington">Ami Bebbington</name><affiliation><nlm:aff id="aff1"><institution>Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia</institution>, Perth, Western Australia,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Downs, Jenny" sort="Downs, Jenny" uniqKey="Downs J" first="Jenny" last="Downs">Jenny Downs</name><affiliation><nlm:aff id="aff1"><institution>Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia</institution>, Perth, Western Australia,<country>Australia</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"><institution>School of Physiotherapy and Curtin Health Innovation Research Institute</institution>, Perth, Western Australia,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Percy, Alan" sort="Percy, Alan" uniqKey="Percy A" first="Alan" last="Percy">Alan Percy</name><affiliation><nlm:aff id="aff3"><institution>Civitan International Research Centre, University of Alabama</institution>, Birmingham, AL,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Pineda, Merce" sort="Pineda, Merce" uniqKey="Pineda M" first="Mercé" last="Pineda">Mercé Pineda</name><affiliation><nlm:aff id="aff4"><institution>Hospital Sant Joan de Deu</institution>, Barcelona,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Zeev, Bruria Ben" sort="Zeev, Bruria Ben" uniqKey="Zeev B" first="Bruria Ben" last="Zeev">Bruria Ben Zeev</name><affiliation><nlm:aff id="aff5"><institution>Safra Pediatric Hospital, Sheba Medical Center</institution>, Ramat-Gan,<country>Israel</country></nlm:aff></affiliation></author><author><name sortKey="Bahi Buisson, Nadia" sort="Bahi Buisson, Nadia" uniqKey="Bahi Buisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name><affiliation><nlm:aff id="aff6"><institution>Université René Descartes – Paris V, Hopital Necker Enfants Malades</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Leonard, Helen" sort="Leonard, Helen" uniqKey="Leonard H" first="Helen" last="Leonard">Helen Leonard</name><affiliation><nlm:aff id="aff1"><institution>Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia</institution>, Perth, Western Australia,<country>Australia</country></nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22473088</idno><idno type="pmc">3421119</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3421119</idno><idno type="RBID">PMC:3421119</idno><idno type="doi">10.1038/ejhg.2012.34</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">000045</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000045</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The phenotype associated with a large deletion on <italic>MECP2</italic></title><author><name sortKey="Bebbington, Ami" sort="Bebbington, Ami" uniqKey="Bebbington A" first="Ami" last="Bebbington">Ami Bebbington</name><affiliation><nlm:aff id="aff1"><institution>Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia</institution>, Perth, Western Australia,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Downs, Jenny" sort="Downs, Jenny" uniqKey="Downs J" first="Jenny" last="Downs">Jenny Downs</name><affiliation><nlm:aff id="aff1"><institution>Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia</institution>, Perth, Western Australia,<country>Australia</country></nlm:aff></affiliation><affiliation><nlm:aff id="aff2"><institution>School of Physiotherapy and Curtin Health Innovation Research Institute</institution>, Perth, Western Australia,<country>Australia</country></nlm:aff></affiliation></author><author><name sortKey="Percy, Alan" sort="Percy, Alan" uniqKey="Percy A" first="Alan" last="Percy">Alan Percy</name><affiliation><nlm:aff id="aff3"><institution>Civitan International Research Centre, University of Alabama</institution>, Birmingham, AL,<country>USA</country></nlm:aff></affiliation></author><author><name sortKey="Pineda, Merce" sort="Pineda, Merce" uniqKey="Pineda M" first="Mercé" last="Pineda">Mercé Pineda</name><affiliation><nlm:aff id="aff4"><institution>Hospital Sant Joan de Deu</institution>, Barcelona,<country>Spain</country></nlm:aff></affiliation></author><author><name sortKey="Zeev, Bruria Ben" sort="Zeev, Bruria Ben" uniqKey="Zeev B" first="Bruria Ben" last="Zeev">Bruria Ben Zeev</name><affiliation><nlm:aff id="aff5"><institution>Safra Pediatric Hospital, Sheba Medical Center</institution>, Ramat-Gan,<country>Israel</country></nlm:aff></affiliation></author><author><name sortKey="Bahi Buisson, Nadia" sort="Bahi Buisson, Nadia" uniqKey="Bahi Buisson N" first="Nadia" last="Bahi-Buisson">Nadia Bahi-Buisson</name><affiliation><nlm:aff id="aff6"><institution>Université René Descartes – Paris V, Hopital Necker Enfants Malades</institution>, Paris,<country>France</country></nlm:aff></affiliation></author><author><name sortKey="Leonard, Helen" sort="Leonard, Helen" uniqKey="Leonard H" first="Helen" last="Leonard">Helen Leonard</name><affiliation><nlm:aff id="aff1"><institution>Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia</institution>, Perth, Western Australia,<country>Australia</country></nlm:aff></affiliation></author></analytic><series><title level="j">European Journal of Human Genetics</title><idno type="ISSN">1018-4813</idno><idno type="eISSN">1476-5438</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the <italic>MECP2</italic> gene allowing genetic confirmation of previously unconfirmed cases of clinical Rett syndrome. This study describes the phenotype of those with a large deletion and compares with those with other pathogenic <italic>MECP2</italic> mutations. Individuals were ascertained from the Australian Rett Syndrome and InterRett databases with data sourced from family and clinician questionnaires, and two case studies were constructed from the longitudinal Australian data. Regression and survival analysis were used to compare severity and age of onset of symptoms in those with and without a large deletion. Data were available for 974 individuals including 51 with a large deletion and ages ranged from 1 year 4 months to 49 years (median 9 years). Those with a large deletion were more severely affected than those with other mutation types. Specifically, individuals with large deletions were less likely to have learned to walk (OR 0.42, 95% CI: 0.22–0.79, <italic>P</italic>=0.007) and to be currently walking (OR 0.53, 95% CI: 0.26–1.10, <italic>P</italic>=0.089), and were at higher odds of being in the most severe category of gross motor function (OR 1.84, 95% CI: 0.98–3.48, <italic>P</italic>=0.057) and epilepsy (OR 2.72, 95% CI: 1.38–5.37, <italic>P</italic>=0.004). They also developed epilepsy, scoliosis, hand stereotypies and abnormal breathing patterns at an earlier age. We have described the disorder profile associated with a large deletion from the largest sample to date and have found that the phenotype is severe with motor skills particularly affected.</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">Eur J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Eur. J. Hum. Genet</journal-id><journal-title-group><journal-title>European Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">1018-4813</issn><issn pub-type="epub">1476-5438</issn><publisher><publisher-name>Nature Publishing Group</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">22473088</article-id><article-id pub-id-type="pmc">3421119</article-id><article-id pub-id-type="pii">ejhg201234</article-id><article-id pub-id-type="doi">10.1038/ejhg.2012.34</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>The phenotype associated with a large deletion on <italic>MECP2</italic></article-title><alt-title alt-title-type="running">Deletion on <italic>MECP2</italic> gene and its comparison</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Bebbington</surname><given-names>Ami</given-names></name><xref ref-type="aff" rid="aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Downs</surname><given-names>Jenny</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Percy</surname><given-names>Alan</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Pineda</surname><given-names>Mercé</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Zeev</surname><given-names>Bruria Ben</given-names></name><xref ref-type="aff" rid="aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>Bahi-Buisson</surname><given-names>Nadia</given-names></name><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Leonard</surname><given-names>Helen</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="corresp" rid="caf1">*</xref></contrib><aff id="aff1"><label>1</label><institution>Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia</institution>, Perth, Western Australia,<country>Australia</country></aff><aff id="aff2"><label>2</label><institution>School of Physiotherapy and Curtin Health Innovation Research Institute</institution>, Perth, Western Australia,<country>Australia</country></aff><aff id="aff3"><label>3</label><institution>Civitan International Research Centre, University of Alabama</institution>, Birmingham, AL,<country>USA</country></aff><aff id="aff4"><label>4</label><institution>Hospital Sant Joan de Deu</institution>, Barcelona,<country>Spain</country></aff><aff id="aff5"><label>5</label><institution>Safra Pediatric Hospital, Sheba Medical Center</institution>, Ramat-Gan,<country>Israel</country></aff><aff id="aff6"><label>6</label><institution>Université René Descartes – Paris V, Hopital Necker Enfants Malades</institution>, Paris,<country>France</country></aff></contrib-group><author-notes><corresp id="caf1"><label>*</label><institution>Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia</institution>, Perth, Western Australia 6872, <country>Australia</country>. Tel: +61 0894897790; Fax: +61 0894897700; E-mail: <email>hleonard@ichr.uwa.edu.au</email></corresp></author-notes><pub-date pub-type="ppub"><month>09</month><year>2012</year></pub-date><pub-date pub-type="epub"><day>04</day><month>04</month><year>2012</year></pub-date><volume>20</volume><issue>9</issue><fpage>921</fpage><lpage>927</lpage><history><date date-type="received"><day>09</day><month>06</month><year>2011</year></date><date date-type="rev-recd"><day>09</day><month>11</month><year>2011</year></date><date date-type="accepted"><day>07</day><month>12</month><year>2011</year></date></history><permissions><copyright-statement>Copyright © 2012 Macmillan Publishers Limited</copyright-statement><copyright-year>2012</copyright-year><copyright-holder>Macmillan Publishers Limited</copyright-holder></permissions><abstract><p>Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the <italic>MECP2</italic> gene allowing genetic confirmation of previously unconfirmed cases of clinical Rett syndrome. This study describes the phenotype of those with a large deletion and compares with those with other pathogenic <italic>MECP2</italic> mutations. Individuals were ascertained from the Australian Rett Syndrome and InterRett databases with data sourced from family and clinician questionnaires, and two case studies were constructed from the longitudinal Australian data. Regression and survival analysis were used to compare severity and age of onset of symptoms in those with and without a large deletion. Data were available for 974 individuals including 51 with a large deletion and ages ranged from 1 year 4 months to 49 years (median 9 years). Those with a large deletion were more severely affected than those with other mutation types. Specifically, individuals with large deletions were less likely to have learned to walk (OR 0.42, 95% CI: 0.22–0.79, <italic>P</italic>=0.007) and to be currently walking (OR 0.53, 95% CI: 0.26–1.10, <italic>P</italic>=0.089), and were at higher odds of being in the most severe category of gross motor function (OR 1.84, 95% CI: 0.98–3.48, <italic>P</italic>=0.057) and epilepsy (OR 2.72, 95% CI: 1.38–5.37, <italic>P</italic>=0.004). They also developed epilepsy, scoliosis, hand stereotypies and abnormal breathing patterns at an earlier age. We have described the disorder profile associated with a large deletion from the largest sample to date and have found that the phenotype is severe with motor skills particularly affected.</p></abstract><kwd-group><kwd>rett syndrome</kwd><kwd>large deletion</kwd><kwd>phenotype</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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