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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in <italic>KCTD1</italic> Cause Scalp-Ear-Nipple Syndrome</title><author><name sortKey="Marneros, Alexander G" sort="Marneros, Alexander G" uniqKey="Marneros A" first="Alexander G." last="Marneros">Alexander G. Marneros</name><affiliation><nlm:aff id="aff1">Cutaneous Biology Research Center, Massachusetts General Hospital, Charlestown, MA 02129, USA</nlm:aff></affiliation></author><author><name sortKey="Beck, Anita E" sort="Beck, Anita E" uniqKey="Beck A" first="Anita E." last="Beck">Anita E. Beck</name><affiliation><nlm:aff id="aff2">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Turner, Emily H" sort="Turner, Emily H" uniqKey="Turner E" first="Emily H." last="Turner">Emily H. Turner</name><affiliation><nlm:aff id="aff3">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Mcmillin, Margaret J" sort="Mcmillin, Margaret J" uniqKey="Mcmillin M" first="Margaret J." last="Mcmillin">Margaret J. Mcmillin</name><affiliation><nlm:aff id="aff2">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Edwards, Matthew J" sort="Edwards, Matthew J" uniqKey="Edwards M" first="Matthew J." last="Edwards">Matthew J. Edwards</name><affiliation><nlm:aff id="aff4">School of Medicine, University of Western Sydney, Campbelltown, NSW 2560, Australia</nlm:aff></affiliation></author><author><name sortKey="Field, Michael" sort="Field, Michael" uniqKey="Field M" first="Michael" last="Field">Michael Field</name><affiliation><nlm:aff id="aff5">Genetics of Learning Disabilities Service, Hunter Genetics, Waratah, Newcastle, NSW 2298, Australia</nlm:aff></affiliation></author><author><name sortKey="De Macena Sobreira, Nara Lygia" sort="De Macena Sobreira, Nara Lygia" uniqKey="De Macena Sobreira N" first="Nara Lygia" last="De Macena Sobreira">Nara Lygia De Macena Sobreira</name><affiliation><nlm:aff id="aff6">McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD 21205, USA</nlm:aff></affiliation></author><author><name sortKey="Perez, Ana Beatriz A" sort="Perez, Ana Beatriz A" uniqKey="Perez A" first="Ana Beatriz A." last="Perez">Ana Beatriz A. Perez</name><affiliation><nlm:aff id="aff7">Clinical Genetics Center, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo 04021-001, Brazil</nlm:aff></affiliation></author><author><name sortKey="Fortes, Jose A R" sort="Fortes, Jose A R" uniqKey="Fortes J" first="Jose A. R." last="Fortes">Jose A. R. Fortes</name><affiliation><nlm:aff id="aff8">Departament of Internal Medicine, Pontifícia Universidade Católica do Paraná, Curitiba 1155, Brasil</nlm:aff></affiliation></author><author><name sortKey="Lampe, Anne K" sort="Lampe, Anne K" uniqKey="Lampe A" first="Anne K." last="Lampe">Anne K. Lampe</name><affiliation><nlm:aff id="aff9">South East of Scotland Clinical Genetic Service, Western General Hospital, Edinburgh EH4 2XU, UK</nlm:aff></affiliation></author><author><name sortKey="Giovannucci Uzielli, Maria Luisa" sort="Giovannucci Uzielli, Maria Luisa" uniqKey="Giovannucci Uzielli M" first="Maria Luisa" last="Giovannucci Uzielli">Maria Luisa Giovannucci Uzielli</name><affiliation><nlm:aff id="aff10">Department of Genetics and Molecular Medicine, University of Florence, Florence 50132, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="aff11">Genetic Science, Florence I-50132, Italy</nlm:aff></affiliation></author><author><name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T." last="Gordon">Christopher T. Gordon</name><affiliation><nlm:aff id="aff12">Institut National de la Santé et de la Recherche Médicale U781, Département de Génétique, Hôpital Necker Enfants Malades, Paris 75015, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff13">Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris 75015, France</nlm:aff></affiliation></author><author><name sortKey="Plessis, Ghislaine" sort="Plessis, Ghislaine" uniqKey="Plessis G" first="Ghislaine" last="Plessis">Ghislaine Plessis</name><affiliation><nlm:aff id="aff14">Service de Génétique, Centre Hospitalier Universitaire de Caen, Hôpital de la Côte de Nacre, Caen 14033 Cedex 9, France</nlm:aff></affiliation></author><author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><affiliation><nlm:aff id="aff14">Service de Génétique, Centre Hospitalier Universitaire de Caen, Hôpital de la Côte de Nacre, Caen 14033 Cedex 9, France</nlm:aff></affiliation></author><author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name><affiliation><nlm:aff id="aff14">Service de Génétique, Centre Hospitalier Universitaire de Caen, Hôpital de la Côte de Nacre, Caen 14033 Cedex 9, France</nlm:aff></affiliation></author><author><name sortKey="Reichenberger, Ernst" sort="Reichenberger, Ernst" uniqKey="Reichenberger E" first="Ernst" last="Reichenberger">Ernst Reichenberger</name><affiliation><nlm:aff id="aff15">Department of Reconstructive Sciences, University of Connecticut Health Center, Farmington, CT 06030, USA</nlm:aff></affiliation></author><author><name sortKey="Shively, Kathryn M" sort="Shively, Kathryn M" uniqKey="Shively K" first="Kathryn M." last="Shively">Kathryn M. Shively</name><affiliation><nlm:aff id="aff2">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Cerrato, Felecia" sort="Cerrato, Felecia" uniqKey="Cerrato F" first="Felecia" last="Cerrato">Felecia Cerrato</name><affiliation><nlm:aff id="aff16">Department of Plastic and Oral Surgery, Boston Children’s Hospital, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Labow, Brian I" sort="Labow, Brian I" uniqKey="Labow B" first="Brian I." last="Labow">Brian I. Labow</name><affiliation><nlm:aff id="aff16">Department of Plastic and Oral Surgery, Boston Children’s Hospital, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Tabor, Holly K" sort="Tabor, Holly K" uniqKey="Tabor H" first="Holly K." last="Tabor">Holly K. Tabor</name><affiliation><nlm:aff id="aff17">Treuman-Katz Center for Pediatric Bioethics, Seattle Children’s Research Institute, Seattle, WA 98101, USA</nlm:aff></affiliation></author><author><name sortKey="Smith, Joshua D" sort="Smith, Joshua D" uniqKey="Smith J" first="Joshua D." last="Smith">Joshua D. Smith</name><affiliation><nlm:aff id="aff3">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Shendure, Jay" sort="Shendure, Jay" uniqKey="Shendure J" first="Jay" last="Shendure">Jay Shendure</name><affiliation><nlm:aff id="aff3">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Nickerson, Deborah A" sort="Nickerson, Deborah A" uniqKey="Nickerson D" first="Deborah A." last="Nickerson">Deborah A. Nickerson</name><affiliation><nlm:aff id="aff3">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Bamshad, Michael J" sort="Bamshad, Michael J" uniqKey="Bamshad M" first="Michael J." last="Bamshad">Michael J. Bamshad</name><affiliation><nlm:aff id="aff2">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23541344</idno><idno type="pmc">3617379</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3617379</idno><idno type="RBID">PMC:3617379</idno><idno type="doi">10.1016/j.ajhg.2013.03.002</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">001202</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001202</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in <italic>KCTD1</italic> Cause Scalp-Ear-Nipple Syndrome</title><author><name sortKey="Marneros, Alexander G" sort="Marneros, Alexander G" uniqKey="Marneros A" first="Alexander G." last="Marneros">Alexander G. Marneros</name><affiliation><nlm:aff id="aff1">Cutaneous Biology Research Center, Massachusetts General Hospital, Charlestown, MA 02129, USA</nlm:aff></affiliation></author><author><name sortKey="Beck, Anita E" sort="Beck, Anita E" uniqKey="Beck A" first="Anita E." last="Beck">Anita E. Beck</name><affiliation><nlm:aff id="aff2">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Turner, Emily H" sort="Turner, Emily H" uniqKey="Turner E" first="Emily H." last="Turner">Emily H. Turner</name><affiliation><nlm:aff id="aff3">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Mcmillin, Margaret J" sort="Mcmillin, Margaret J" uniqKey="Mcmillin M" first="Margaret J." last="Mcmillin">Margaret J. Mcmillin</name><affiliation><nlm:aff id="aff2">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Edwards, Matthew J" sort="Edwards, Matthew J" uniqKey="Edwards M" first="Matthew J." last="Edwards">Matthew J. Edwards</name><affiliation><nlm:aff id="aff4">School of Medicine, University of Western Sydney, Campbelltown, NSW 2560, Australia</nlm:aff></affiliation></author><author><name sortKey="Field, Michael" sort="Field, Michael" uniqKey="Field M" first="Michael" last="Field">Michael Field</name><affiliation><nlm:aff id="aff5">Genetics of Learning Disabilities Service, Hunter Genetics, Waratah, Newcastle, NSW 2298, Australia</nlm:aff></affiliation></author><author><name sortKey="De Macena Sobreira, Nara Lygia" sort="De Macena Sobreira, Nara Lygia" uniqKey="De Macena Sobreira N" first="Nara Lygia" last="De Macena Sobreira">Nara Lygia De Macena Sobreira</name><affiliation><nlm:aff id="aff6">McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD 21205, USA</nlm:aff></affiliation></author><author><name sortKey="Perez, Ana Beatriz A" sort="Perez, Ana Beatriz A" uniqKey="Perez A" first="Ana Beatriz A." last="Perez">Ana Beatriz A. Perez</name><affiliation><nlm:aff id="aff7">Clinical Genetics Center, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo 04021-001, Brazil</nlm:aff></affiliation></author><author><name sortKey="Fortes, Jose A R" sort="Fortes, Jose A R" uniqKey="Fortes J" first="Jose A. R." last="Fortes">Jose A. R. Fortes</name><affiliation><nlm:aff id="aff8">Departament of Internal Medicine, Pontifícia Universidade Católica do Paraná, Curitiba 1155, Brasil</nlm:aff></affiliation></author><author><name sortKey="Lampe, Anne K" sort="Lampe, Anne K" uniqKey="Lampe A" first="Anne K." last="Lampe">Anne K. Lampe</name><affiliation><nlm:aff id="aff9">South East of Scotland Clinical Genetic Service, Western General Hospital, Edinburgh EH4 2XU, UK</nlm:aff></affiliation></author><author><name sortKey="Giovannucci Uzielli, Maria Luisa" sort="Giovannucci Uzielli, Maria Luisa" uniqKey="Giovannucci Uzielli M" first="Maria Luisa" last="Giovannucci Uzielli">Maria Luisa Giovannucci Uzielli</name><affiliation><nlm:aff id="aff10">Department of Genetics and Molecular Medicine, University of Florence, Florence 50132, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="aff11">Genetic Science, Florence I-50132, Italy</nlm:aff></affiliation></author><author><name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T." last="Gordon">Christopher T. Gordon</name><affiliation><nlm:aff id="aff12">Institut National de la Santé et de la Recherche Médicale U781, Département de Génétique, Hôpital Necker Enfants Malades, Paris 75015, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff13">Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris 75015, France</nlm:aff></affiliation></author><author><name sortKey="Plessis, Ghislaine" sort="Plessis, Ghislaine" uniqKey="Plessis G" first="Ghislaine" last="Plessis">Ghislaine Plessis</name><affiliation><nlm:aff id="aff14">Service de Génétique, Centre Hospitalier Universitaire de Caen, Hôpital de la Côte de Nacre, Caen 14033 Cedex 9, France</nlm:aff></affiliation></author><author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><affiliation><nlm:aff id="aff14">Service de Génétique, Centre Hospitalier Universitaire de Caen, Hôpital de la Côte de Nacre, Caen 14033 Cedex 9, France</nlm:aff></affiliation></author><author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name><affiliation><nlm:aff id="aff14">Service de Génétique, Centre Hospitalier Universitaire de Caen, Hôpital de la Côte de Nacre, Caen 14033 Cedex 9, France</nlm:aff></affiliation></author><author><name sortKey="Reichenberger, Ernst" sort="Reichenberger, Ernst" uniqKey="Reichenberger E" first="Ernst" last="Reichenberger">Ernst Reichenberger</name><affiliation><nlm:aff id="aff15">Department of Reconstructive Sciences, University of Connecticut Health Center, Farmington, CT 06030, USA</nlm:aff></affiliation></author><author><name sortKey="Shively, Kathryn M" sort="Shively, Kathryn M" uniqKey="Shively K" first="Kathryn M." last="Shively">Kathryn M. Shively</name><affiliation><nlm:aff id="aff2">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Cerrato, Felecia" sort="Cerrato, Felecia" uniqKey="Cerrato F" first="Felecia" last="Cerrato">Felecia Cerrato</name><affiliation><nlm:aff id="aff16">Department of Plastic and Oral Surgery, Boston Children’s Hospital, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Labow, Brian I" sort="Labow, Brian I" uniqKey="Labow B" first="Brian I." last="Labow">Brian I. Labow</name><affiliation><nlm:aff id="aff16">Department of Plastic and Oral Surgery, Boston Children’s Hospital, Boston, MA 02115, USA</nlm:aff></affiliation></author><author><name sortKey="Tabor, Holly K" sort="Tabor, Holly K" uniqKey="Tabor H" first="Holly K." last="Tabor">Holly K. Tabor</name><affiliation><nlm:aff id="aff17">Treuman-Katz Center for Pediatric Bioethics, Seattle Children’s Research Institute, Seattle, WA 98101, USA</nlm:aff></affiliation></author><author><name sortKey="Smith, Joshua D" sort="Smith, Joshua D" uniqKey="Smith J" first="Joshua D." last="Smith">Joshua D. Smith</name><affiliation><nlm:aff id="aff3">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Shendure, Jay" sort="Shendure, Jay" uniqKey="Shendure J" first="Jay" last="Shendure">Jay Shendure</name><affiliation><nlm:aff id="aff3">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Nickerson, Deborah A" sort="Nickerson, Deborah A" uniqKey="Nickerson D" first="Deborah A." last="Nickerson">Deborah A. Nickerson</name><affiliation><nlm:aff id="aff3">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Bamshad, Michael J" sort="Bamshad, Michael J" uniqKey="Bamshad M" first="Michael J." last="Bamshad">Michael J. Bamshad</name><affiliation><nlm:aff id="aff2">Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</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="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Scalp-ear-nipple (SEN) syndrome is a rare, autosomal-dominant disorder characterized by cutis aplasia of the scalp; minor anomalies of the external ears, digits, and nails; and malformations of the breast. We used linkage analysis and exome sequencing of a multiplex family affected by SEN syndrome to identify potassium-channel tetramerization-domain-containing 1 (<italic>KCTD1</italic>) mutations that cause SEN syndrome. Evaluation of a total of ten families affected by SEN syndrome revealed <italic>KCTD1</italic> missense mutations in each family tested. All of the mutations occurred in a <italic>KCTD1</italic> region encoding a highly conserved bric-a-brac, tram track, and broad complex (BTB) domain that is required for transcriptional repressor activity. KCTD1 inhibits the transactivation of the transcription factor AP-2α (TFAP2A) via its BTB domain, and mutations in <italic>TFAP2A</italic> cause cutis aplasia in individuals with branchiooculofacial syndrome (BOFS), suggesting a potential overlap in the pathogenesis of SEN syndrome and BOFS. The identification of <italic>KCTD1</italic> mutations in SEN syndrome reveals a role for this BTB-domain-containing transcriptional repressor during ectodermal development.</p></div></front></TEI><pmc article-type="brief-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="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">23541344</article-id><article-id pub-id-type="pmc">3617379</article-id><article-id pub-id-type="publisher-id">AJHG1380</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2013.03.002</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>Mutations in <italic>KCTD1</italic> Cause Scalp-Ear-Nipple Syndrome</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Marneros</surname><given-names>Alexander G.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="fn1" ref-type="fn">18</xref></contrib><contrib contrib-type="author"><name><surname>Beck</surname><given-names>Anita E.</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="fn1" ref-type="fn">18</xref></contrib><contrib contrib-type="author"><name><surname>Turner</surname><given-names>Emily H.</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="fn1" ref-type="fn">18</xref></contrib><contrib contrib-type="author"><name><surname>McMillin</surname><given-names>Margaret J.</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Edwards</surname><given-names>Matthew J.</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Field</surname><given-names>Michael</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>de Macena Sobreira</surname><given-names>Nara Lygia</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Perez</surname><given-names>Ana Beatriz A.</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Fortes</surname><given-names>Jose A.R.</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Lampe</surname><given-names>Anne K.</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Giovannucci Uzielli</surname><given-names>Maria Luisa</given-names></name><xref rid="aff10" ref-type="aff">10</xref><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Gordon</surname><given-names>Christopher T.</given-names></name><xref rid="aff12" ref-type="aff">12</xref><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Plessis</surname><given-names>Ghislaine</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Le Merrer</surname><given-names>Martine</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Amiel</surname><given-names>Jeanne</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Reichenberger</surname><given-names>Ernst</given-names></name><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Shively</surname><given-names>Kathryn M.</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Cerrato</surname><given-names>Felecia</given-names></name><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Labow</surname><given-names>Brian I.</given-names></name><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Tabor</surname><given-names>Holly K.</given-names></name><xref rid="aff17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Smith</surname><given-names>Joshua D.</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Shendure</surname><given-names>Jay</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Nickerson</surname><given-names>Deborah A.</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Bamshad</surname><given-names>Michael J.</given-names></name><email>mbamshad@uw.edu</email><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib><contrib contrib-type="author"><collab>the University of Washington Center for Mendelian Genomics</collab></contrib></contrib-group><aff id="aff1"><label>1</label>Cutaneous Biology Research Center, Massachusetts General Hospital, Charlestown, MA 02129, USA</aff><aff id="aff2"><label>2</label>Department of Pediatrics, University of Washington, Seattle, WA 98195, USA</aff><aff id="aff3"><label>3</label>Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA</aff><aff id="aff4"><label>4</label>School of Medicine, University of Western Sydney, Campbelltown, NSW 2560, Australia</aff><aff id="aff5"><label>5</label>Genetics of Learning Disabilities Service, Hunter Genetics, Waratah, Newcastle, NSW 2298, Australia</aff><aff id="aff6"><label>6</label>McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD 21205, USA</aff><aff id="aff7"><label>7</label>Clinical Genetics Center, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo 04021-001, Brazil</aff><aff id="aff8"><label>8</label>Departament of Internal Medicine, Pontifícia Universidade Católica do Paraná, Curitiba 1155, Brasil</aff><aff id="aff9"><label>9</label>South East of Scotland Clinical Genetic Service, Western General Hospital, Edinburgh EH4 2XU, UK</aff><aff id="aff10"><label>10</label>Department of Genetics and Molecular Medicine, University of Florence, Florence 50132, Italy</aff><aff id="aff11"><label>11</label>Genetic Science, Florence I-50132, Italy</aff><aff id="aff12"><label>12</label>Institut National de la Santé et de la Recherche Médicale U781, Département de Génétique, Hôpital Necker Enfants Malades, Paris 75015, France</aff><aff id="aff13"><label>13</label>Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris 75015, France</aff><aff id="aff14"><label>14</label>Service de Génétique, Centre Hospitalier Universitaire de Caen, Hôpital de la Côte de Nacre, Caen 14033 Cedex 9, France</aff><aff id="aff15"><label>15</label>Department of Reconstructive Sciences, University of Connecticut Health Center, Farmington, CT 06030, USA</aff><aff id="aff16"><label>16</label>Department of Plastic and Oral Surgery, Boston Children’s Hospital, Boston, MA 02115, USA</aff><aff id="aff17"><label>17</label>Treuman-Katz Center for Pediatric Bioethics, Seattle Children’s Research Institute, Seattle, WA 98101, USA</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>mbamshad@uw.edu</email></corresp><fn id="fn1"><label>18</label><p>These authors contributed equally to this work</p></fn></author-notes><pub-date pub-type="ppub"><day>04</day><month>4</month><year>2013</year></pub-date><volume>92</volume><issue>4</issue><fpage>621</fpage><lpage>626</lpage><history><date date-type="received"><day>30</day><month>1</month><year>2013</year></date><date date-type="rev-recd"><day>28</day><month>2</month><year>2013</year></date><date date-type="accepted"><day>6</day><month>3</month><year>2013</year></date></history><permissions><copyright-statement>© 2013 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2013</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>Scalp-ear-nipple (SEN) syndrome is a rare, autosomal-dominant disorder characterized by cutis aplasia of the scalp; minor anomalies of the external ears, digits, and nails; and malformations of the breast. We used linkage analysis and exome sequencing of a multiplex family affected by SEN syndrome to identify potassium-channel tetramerization-domain-containing 1 (<italic>KCTD1</italic>) mutations that cause SEN syndrome. Evaluation of a total of ten families affected by SEN syndrome revealed <italic>KCTD1</italic> missense mutations in each family tested. All of the mutations occurred in a <italic>KCTD1</italic> region encoding a highly conserved bric-a-brac, tram track, and broad complex (BTB) domain that is required for transcriptional repressor activity. KCTD1 inhibits the transactivation of the transcription factor AP-2α (TFAP2A) via its BTB domain, and mutations in <italic>TFAP2A</italic> cause cutis aplasia in individuals with branchiooculofacial syndrome (BOFS), suggesting a potential overlap in the pathogenesis of SEN syndrome and BOFS. The identification of <italic>KCTD1</italic> mutations in SEN syndrome reveals a role for this BTB-domain-containing transcriptional repressor during ectodermal development.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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