Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features
Identifieur interne : 002953 ( Pmc/Curation ); précédent : 002952; suivant : 002954Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features
Auteurs : B. Lozi [Croatie] ; J. Ljubkovi [Croatie] ; D. Gabri Panduri [Croatie] ; I. Saltvig [Slovaquie] ; K. Kutsche [Allemagne] ; V. Krželj [Croatie] ; T. Zemunik [Croatie]Source :
- Brazilian Journal of Medical and Biological Research [ 0100-879X ] ; 2012.
Abstract
Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the
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DOI: 10.1590/S0100-879X2012007500150
PubMed: 22983184
PubMed Central: 3854205
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Ljubkovi</name><affiliation wicri:level="1"><nlm:aff id="aff2">Department of Pathology, Forensic Medicine and Cytology, University Hospital Split, Split , Croatia</nlm:aff><country xml:lang="fr">Croatie</country><wicri:regionArea>Department of Pathology, Forensic Medicine and Cytology, University Hospital Split, Split </wicri:regionArea></affiliation></author><author><name sortKey="Gabri Panduri, D" sort="Gabri Panduri, D" uniqKey="Gabri Panduri D" first="D." last="Gabri Panduri">D. Gabri Panduri</name><affiliation wicri:level="1"><nlm:aff id="aff3">Department of Oral Surgery, School of Dental Medicine, University of Zagreb, Zagreb , Croatia</nlm:aff><country xml:lang="fr">Croatie</country><wicri:regionArea>Department of Oral Surgery, School of Dental Medicine, University of Zagreb, Zagreb </wicri:regionArea></affiliation></author><author><name sortKey="Saltvig, I" sort="Saltvig, I" uniqKey="Saltvig I" first="I." last="Saltvig">I. Saltvig</name><affiliation wicri:level="1"><nlm:aff id="aff4">Jessenius Faculty of Medicine of Commenius, University in Bratislava, Martin , Slovakia</nlm:aff><country xml:lang="fr">Slovaquie</country><wicri:regionArea>Jessenius Faculty of Medicine of Commenius, University in Bratislava, Martin </wicri:regionArea></affiliation></author><author><name sortKey="Kutsche, K" sort="Kutsche, K" uniqKey="Kutsche K" first="K." last="Kutsche">K. Kutsche</name><affiliation wicri:level="1"><nlm:aff id="aff5">Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg</wicri:regionArea></affiliation></author><author><name sortKey="Krzelj, V" sort="Krzelj, V" uniqKey="Krzelj V" first="V." last="Krželj">V. Krželj</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Pediatrics, University Hospital Split, Split , Croatia</nlm:aff><country xml:lang="fr">Croatie</country><wicri:regionArea>Department of Pediatrics, University Hospital Split, Split </wicri:regionArea></affiliation></author><author><name sortKey="Zemunik, T" sort="Zemunik, T" uniqKey="Zemunik T" first="T." last="Zemunik">T. 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Lozi</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Pediatrics, University Hospital Split, Split , Croatia</nlm:aff><country xml:lang="fr">Croatie</country><wicri:regionArea>Department of Pediatrics, University Hospital Split, Split </wicri:regionArea></affiliation></author><author><name sortKey="Ljubkovi, J" sort="Ljubkovi, J" uniqKey="Ljubkovi J" first="J." last="Ljubkovi">J. Ljubkovi</name><affiliation wicri:level="1"><nlm:aff id="aff2">Department of Pathology, Forensic Medicine and Cytology, University Hospital Split, Split , Croatia</nlm:aff><country xml:lang="fr">Croatie</country><wicri:regionArea>Department of Pathology, Forensic Medicine and Cytology, University Hospital Split, Split </wicri:regionArea></affiliation></author><author><name sortKey="Gabri Panduri, D" sort="Gabri Panduri, D" uniqKey="Gabri Panduri D" first="D." last="Gabri Panduri">D. Gabri Panduri</name><affiliation wicri:level="1"><nlm:aff id="aff3">Department of Oral Surgery, School of Dental Medicine, University of Zagreb, Zagreb , Croatia</nlm:aff><country xml:lang="fr">Croatie</country><wicri:regionArea>Department of Oral Surgery, School of Dental Medicine, University of Zagreb, Zagreb </wicri:regionArea></affiliation></author><author><name sortKey="Saltvig, I" sort="Saltvig, I" uniqKey="Saltvig I" first="I." last="Saltvig">I. Saltvig</name><affiliation wicri:level="1"><nlm:aff id="aff4">Jessenius Faculty of Medicine of Commenius, University in Bratislava, Martin , Slovakia</nlm:aff><country xml:lang="fr">Slovaquie</country><wicri:regionArea>Jessenius Faculty of Medicine of Commenius, University in Bratislava, Martin </wicri:regionArea></affiliation></author><author><name sortKey="Kutsche, K" sort="Kutsche, K" uniqKey="Kutsche K" first="K." last="Kutsche">K. Kutsche</name><affiliation wicri:level="1"><nlm:aff id="aff5">Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg</wicri:regionArea></affiliation></author><author><name sortKey="Krzelj, V" sort="Krzelj, V" uniqKey="Krzelj V" first="V." last="Krželj">V. Krželj</name><affiliation wicri:level="1"><nlm:aff id="aff1">Department of Pediatrics, University Hospital Split, Split , Croatia</nlm:aff><country xml:lang="fr">Croatie</country><wicri:regionArea>Department of Pediatrics, University Hospital Split, Split </wicri:regionArea></affiliation></author><author><name sortKey="Zemunik, T" sort="Zemunik, T" uniqKey="Zemunik T" first="T." last="Zemunik">T. Zemunik</name><affiliation wicri:level="1"><nlm:aff id="aff6">Department of Medical Biology, School of Medicine, University of Split, Split , Croatia</nlm:aff><country xml:lang="fr">Croatie</country><wicri:regionArea>Department of Medical Biology, School of Medicine, University of Split, Split </wicri:regionArea></affiliation></author></analytic><series><title level="j">Brazilian Journal of Medical and Biological Research</title><idno type="ISSN">0100-879X</idno><idno type="eISSN">1414-431X</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 id="para1">Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the <italic>BCOR</italic> gene, located in Xp11.4, encoding the BCL6 co-repressor. We report a Croatian family with four female members (grandmother, mother and monozygotic female twins) diagnosed with OFCD syndrome who carry the novel <italic>BCOR</italic> mutation c.4438C>T (p.R1480*). They present high intrafamilial phenotypic variability with special regard to cardiac defect and cataract that showed more severe disease expression in successive generations. Clinical and radiographic examination of the mother of the twins revealed a talon cusp involving the permanent maxillary right central incisor. This is the first known report of a talon cusp in OFCD syndrome with a novel mutation in the <italic>BCOR</italic> gene.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Oberoi, S" uniqKey="Oberoi S">S Oberoi</name></author><author><name sortKey="Winder, Ae" uniqKey="Winder A">AE Winder</name></author><author><name sortKey="Johnston, J" uniqKey="Johnston J">J Johnston</name></author><author><name sortKey="Vargervik, K" uniqKey="Vargervik K">K Vargervik</name></author><author><name sortKey="Slavotinek, Am" uniqKey="Slavotinek A">AM Slavotinek</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wilkie, Ao" uniqKey="Wilkie A">AO Wilkie</name></author><author><name sortKey="Taylor, D" uniqKey="Taylor D">D Taylor</name></author><author><name sortKey="Scambler, Pj" uniqKey="Scambler P">PJ Scambler</name></author><author><name sortKey="Baraitser, M" uniqKey="Baraitser M">M Baraitser</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hedera, P" uniqKey="Hedera P">P Hedera</name></author><author><name sortKey="Gorski, Jl" uniqKey="Gorski J">JL Gorski</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Horn, D" uniqKey="Horn D">D Horn</name></author><author><name sortKey="Chyrek, M" uniqKey="Chyrek M">M Chyrek</name></author><author><name sortKey="Kleier, S" uniqKey="Kleier S">S Kleier</name></author><author><name sortKey="Luttgen, S" uniqKey="Luttgen S">S Luttgen</name></author><author><name sortKey="Bolz, H" uniqKey="Bolz H">H Bolz</name></author><author><name sortKey="Hinkel, Gk" uniqKey="Hinkel G">GK Hinkel</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ng, D" uniqKey="Ng D">D Ng</name></author><author><name sortKey="Thakker, N" uniqKey="Thakker N">N Thakker</name></author><author><name sortKey="Corcoran, Cm" uniqKey="Corcoran C">CM Corcoran</name></author><author><name sortKey="Donnai, D" uniqKey="Donnai D">D Donnai</name></author><author><name sortKey="Perveen, R" uniqKey="Perveen R">R Perveen</name></author><author><name sortKey="Schneider, A" uniqKey="Schneider A">A Schneider</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hilton, E" uniqKey="Hilton E">E Hilton</name></author><author><name sortKey="Johnston, J" uniqKey="Johnston J">J Johnston</name></author><author><name sortKey="Whalen, S" uniqKey="Whalen S">S Whalen</name></author><author><name sortKey="Okamoto, N" uniqKey="Okamoto N">N Okamoto</name></author><author><name sortKey="Hatsukawa, Y" uniqKey="Hatsukawa Y">Y Hatsukawa</name></author><author><name sortKey="Nishio, J" uniqKey="Nishio J">J Nishio</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Schulze, Br" uniqKey="Schulze B">BR Schulze</name></author><author><name sortKey="Horn, D" uniqKey="Horn D">D Horn</name></author><author><name sortKey="Kobelt, A" uniqKey="Kobelt A">A Kobelt</name></author><author><name sortKey="Tariverdian, G" uniqKey="Tariverdian G">G Tariverdian</name></author><author><name sortKey="Stellzig, A" uniqKey="Stellzig A">A Stellzig</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mitchell, Wh" uniqKey="Mitchell W">WH Mitchell</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mellor, Jk" uniqKey="Mellor J">JK Mellor</name></author><author><name sortKey="Ripa, Lw" uniqKey="Ripa L">LW Ripa</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dinesh, Rb" uniqKey="Dinesh R">RB Dinesh</name></author><author><name sortKey="Hegde, S" uniqKey="Hegde S">S Hegde</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mcgovern, E" uniqKey="Mcgovern E">E McGovern</name></author><author><name sortKey="Al Mudaffer, M" uniqKey="Al Mudaffer M">M Al-Mudaffer</name></author><author><name sortKey="Mcmahon, C" uniqKey="Mcmahon C">C McMahon</name></author><author><name sortKey="Brosnahan, D" uniqKey="Brosnahan D">D Brosnahan</name></author><author><name sortKey="Fleming, P" uniqKey="Fleming P">P Fleming</name></author><author><name sortKey="Reardon, W" uniqKey="Reardon W">W Reardon</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Morleo, M" uniqKey="Morleo M">M Morleo</name></author><author><name sortKey="Franco, B" uniqKey="Franco B">B Franco</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Braz J Med Biol Res</journal-id><journal-id journal-id-type="iso-abbrev">Braz. J. Med. Biol. Res</journal-id><journal-title-group><journal-title>Brazilian Journal of Medical and Biological Research</journal-title></journal-title-group><issn pub-type="ppub">0100-879X</issn><issn pub-type="epub">1414-431X</issn><publisher><publisher-name>Sociedade Brasileira de Medicina Tropical</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">22983184</article-id><article-id pub-id-type="pmc">3854205</article-id><article-id pub-id-type="publisher-id">S0100-879X2012007500150</article-id><article-id pub-id-type="doi">10.1590/S0100-879X2012007500150</article-id><article-categories><subj-group subj-group-type="heading"><subject>Case Report</subject></subj-group></article-categories><title-group><article-title>Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Lozić</surname><given-names>B.</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Ljubković</surname><given-names>J.</given-names></name><xref ref-type="aff" rid="aff2"><sup>2</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gabrić Pandurić</surname><given-names>D.</given-names></name><xref ref-type="aff" rid="aff3"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Saltvig</surname><given-names>I.</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib><contrib contrib-type="author"><name><surname>Kutsche</surname><given-names>K.</given-names></name><xref ref-type="aff" rid="aff5"><sup>5</sup></xref></contrib><contrib contrib-type="author"><name><surname>Krželj</surname><given-names>V.</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib><contrib contrib-type="author"><name><surname>Zemunik</surname><given-names>T.</given-names></name><xref ref-type="aff" rid="aff6"><sup>6</sup></xref></contrib><aff id="aff1"><label>1</label>Department of Pediatrics, University Hospital Split, Split , Croatia</aff><aff id="aff2"><label>2</label>Department of Pathology, Forensic Medicine and Cytology, University Hospital Split, Split , Croatia</aff><aff id="aff3"><label>3</label>Department of Oral Surgery, School of Dental Medicine, University of Zagreb, Zagreb , Croatia</aff><aff id="aff4"><label>4</label>Jessenius Faculty of Medicine of Commenius, University in Bratislava, Martin , Slovakia</aff><aff id="aff5"><label>5</label>Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany</aff><aff id="aff6"><label>6</label>Department of Medical Biology, School of Medicine, University of Split, Split , Croatia</aff></contrib-group><author-notes><corresp>Correspondence: T. Zemunik, Department of Medical Biology, School of Medicine, University of Split, Šoltanska 2, 21000 Split, Croatia. Fax: <fax>+385-21-557-895</fax>. E-mail: <email>tzemunik@mefst.hr</email></corresp></author-notes><pub-date pub-type="epub"><day>21</day><month>9</month><year>2012</year></pub-date><pub-date pub-type="collection"><month>12</month><year>2012</year></pub-date><volume>45</volume><issue>12</issue><fpage>1315</fpage><lpage>1319</lpage><history><date date-type="received"><day>19</day><month>5</month><year>2012</year></date><date date-type="accepted"><day>10</day><month>9</month><year>2012</year></date></history><permissions><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc/3.0/"><license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p></license></permissions><abstract><p id="para1">Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the <italic>BCOR</italic> gene, located in Xp11.4, encoding the BCL6 co-repressor. We report a Croatian family with four female members (grandmother, mother and monozygotic female twins) diagnosed with OFCD syndrome who carry the novel <italic>BCOR</italic> mutation c.4438C>T (p.R1480*). They present high intrafamilial phenotypic variability with special regard to cardiac defect and cataract that showed more severe disease expression in successive generations. Clinical and radiographic examination of the mother of the twins revealed a talon cusp involving the permanent maxillary right central incisor. This is the first known report of a talon cusp in OFCD syndrome with a novel mutation in the <italic>BCOR</italic> gene.</p></abstract><kwd-group><kwd>OFCD syndrome</kwd><kwd><italic>BCOR</italic> gene</kwd><kwd>Talon cusp</kwd><kwd>Intrafamilial phenotypic variability</kwd></kwd-group><counts><fig-count count="2"></fig-count><table-count count="1"></table-count><ref-count count="12"></ref-count><page-count count="5"></page-count></counts></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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