Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features
Identifieur interne : 003125 ( Main/Exploration ); précédent : 003124; suivant : 003126Oculo-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
Url:
DOI: 10.1590/S0100-879X2012007500150
PubMed: 22983184
PubMed Central: 3854205
Affiliations:
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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><wicri:noRegion>Split </wicri:noRegion></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><wicri:noRegion>Zagreb </wicri:noRegion></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><wicri:noRegion>Martin </wicri:noRegion></affiliation></author><author><name sortKey="Kutsche, K" sort="Kutsche, K" uniqKey="Kutsche K" first="K." last="Kutsche">K. Kutsche</name><affiliation wicri:level="3"><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><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></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><wicri:noRegion>Split </wicri:noRegion></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><wicri:noRegion>Split </wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22983184</idno><idno type="pmc">3854205</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3854205</idno><idno type="RBID">PMC:3854205</idno><idno type="doi">10.1590/S0100-879X2012007500150</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">002953</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002953</idno><idno type="wicri:Area/Pmc/Curation">002953</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002953</idno><idno type="wicri:Area/Pmc/Checkpoint">001D69</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001D69</idno><idno type="wicri:Area/Ncbi/Merge">004128</idno><idno type="wicri:Area/Ncbi/Curation">004128</idno><idno type="wicri:Area/Ncbi/Checkpoint">004128</idno><idno type="wicri:doubleKey">0100-879X:2012:Lozi B:oculo:facio:cardio</idno><idno type="wicri:Area/Main/Merge">003140</idno><idno type="wicri:Area/Main/Curation">003125</idno><idno type="wicri:Area/Main/Exploration">003125</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features</title><author><name sortKey="Lozi, B" sort="Lozi, B" uniqKey="Lozi B" first="B." last="Lozi">B. 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><wicri:noRegion>Split </wicri:noRegion></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><wicri:noRegion>Split </wicri:noRegion></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><wicri:noRegion>Zagreb </wicri:noRegion></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><wicri:noRegion>Martin </wicri:noRegion></affiliation></author><author><name sortKey="Kutsche, K" sort="Kutsche, K" uniqKey="Kutsche K" first="K." last="Kutsche">K. Kutsche</name><affiliation wicri:level="3"><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><placeName><settlement type="city">Hambourg</settlement><region type="land" nuts="2">Hambourg</region></placeName></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><wicri:noRegion>Split </wicri:noRegion></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><wicri:noRegion>Split </wicri:noRegion></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><affiliations><list><country><li>Allemagne</li><li>Croatie</li><li>Slovaquie</li></country><region><li>Hambourg</li></region><settlement><li>Hambourg</li></settlement></list><tree><country name="Croatie"><noRegion><name sortKey="Lozi, B" sort="Lozi, B" uniqKey="Lozi B" first="B." last="Lozi">B. Lozi</name></noRegion><name sortKey="Gabri Panduri, D" sort="Gabri Panduri, D" uniqKey="Gabri Panduri D" first="D." last="Gabri Panduri">D. Gabri Panduri</name><name sortKey="Krzelj, V" sort="Krzelj, V" uniqKey="Krzelj V" first="V." last="Krželj">V. Krželj</name><name sortKey="Ljubkovi, J" sort="Ljubkovi, J" uniqKey="Ljubkovi J" first="J." last="Ljubkovi">J. Ljubkovi</name><name sortKey="Zemunik, T" sort="Zemunik, T" uniqKey="Zemunik T" first="T." last="Zemunik">T. Zemunik</name></country><country name="Slovaquie"><noRegion><name sortKey="Saltvig, I" sort="Saltvig, I" uniqKey="Saltvig I" first="I." last="Saltvig">I. Saltvig</name></noRegion></country><country name="Allemagne"><region name="Hambourg"><name sortKey="Kutsche, K" sort="Kutsche, K" uniqKey="Kutsche K" first="K." last="Kutsche">K. Kutsche</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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