Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome
Autor(a) principal: | |
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Data de Publicação: | 2013 |
Outros Autores: | , , , , , , , , , , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNIFESP |
Texto Completo: | http://repositorio.unifesp.br/handle/11600/36197 http://dx.doi.org/10.1016/j.ajhg.2013.03.002 |
Resumo: | 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 (KCTD1) mutations that cause SEN syndrome. Evaluation of a total of ten families affected by SEN syndrome revealed KCTD1 missense mutations in each family tested. All of the mutations occurred in a KCTD1 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-2 alpha (TFAP2A) via its BTB domain, and mutations in TFAP2A cause cutis aplasia in individuals with branchiooculofacial syndrome (BOFS), suggesting a potential overlap in the pathogenesis of SEN syndrome and BOFS. the identification of KCTD1 mutations in SEN syndrome reveals a role for this BTB-domain-containing transcriptional repressor during ectodermal development. |
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Marneros, Alexander G.Beck, Anita E.Turner, Emily H.McMillin, Margaret J.Edwards, Matthew J.Field, MichaelSobreira, Nara Lygia de MacenaPerez, Ana Beatriz Alvares [UNIFESP]Fortes, Jose A. R.Lampe, Anne K.Uzielli, Maria Luisa GiovannucciGordon, Christopher T.Plessis, GhislaineLe Merrer, MartineAmiel, JeanneReichenberger, ErnstShively, Kathryn M.Cerrato, FeleciaLabow, Brian I.Tabor, Holly K.Smith, Joshua D.Shendure, JayNickerson, Deborah A.Bamshad, Michael J.Univ WashingtonMassachusetts Gen HospUniv WashingtonUniv Western Sydney MacarthurGenet Learning Disabil ServJohns Hopkins UnivUniversidade Federal de São Paulo (UNIFESP)Pontificia Univ Catolica ParanaWestern Gen HospUniv FlorenceHop Necker Enfants MaladUniv Paris Descartes Sorbonne Paris CiteHop Cote NacreUniv ConnecticutBoston Childrens HospTreuman Katz Ctr Pediat Bioeth2016-01-24T14:31:34Z2016-01-24T14:31:34Z2013-04-04American Journal of Human Genetics. Cambridge: Cell Press, v. 92, n. 4, p. 621-626, 2013.0002-9297http://repositorio.unifesp.br/handle/11600/36197http://dx.doi.org/10.1016/j.ajhg.2013.03.002WOS000317449700015.pdf10.1016/j.ajhg.2013.03.002WOS:000317449700015Scalp-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 (KCTD1) mutations that cause SEN syndrome. Evaluation of a total of ten families affected by SEN syndrome revealed KCTD1 missense mutations in each family tested. All of the mutations occurred in a KCTD1 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-2 alpha (TFAP2A) via its BTB domain, and mutations in TFAP2A cause cutis aplasia in individuals with branchiooculofacial syndrome (BOFS), suggesting a potential overlap in the pathogenesis of SEN syndrome and BOFS. the identification of KCTD1 mutations in SEN syndrome reveals a role for this BTB-domain-containing transcriptional repressor during ectodermal development.National Institutes of Health National Human Genome Research InstituteLife Sciences Discovery FundWashington Research FoundationMassachusetts Gen Hosp, Cutaneous Biol Res Ctr, Charlestown, MA 02129 USAUniv Washington, Dept Pediat, Seattle, WA 98195 USAUniv Washington, Dept Genome Sci, Seattle, WA 98195 USAUniv Western Sydney Macarthur, Sch Med, Campbelltown, NSW 2560, AustraliaGenet Learning Disabil Serv, Newcastle, NSW 2298, AustraliaJohns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USAUniversidade Federal de São Paulo, Dept Morphol & Genet, Clin Genet Ctr, BR-04021001 São Paulo, BrazilPontificia Univ Catolica Parana, Dept Internal Med, BR-1155 Curitiba, Parana, BrazilWestern Gen Hosp, South East Scotland Clin Genet Serv, Edinburgh EH4 2XU, Midlothian, ScotlandUniv Florence, Dept Genet & Mol Med, I-50132 Florence, ItalyHop Necker Enfants Malad, Dept Genet, INSERM, U781, F-75015 Paris, FranceUniv Paris Descartes Sorbonne Paris Cite, Inst Imagine, F-75015 Paris, FranceHop Cote Nacre, CHU Caen, Serv Genet, F-14033 Caen 9, FranceUniv Connecticut, Ctr Hlth, Dept Reconstruct Sci, Farmington, CT 06030 USABoston Childrens Hosp, Dept Plast & Oral Surg, Boston, MA 02115 USATreuman Katz Ctr Pediat Bioeth, Seattle Childrens Res Inst, Seattle, WA 98101 USAUniversidade Federal de São Paulo, Dept Morphol & Genet, Clin Genet Ctr, BR-04021001 São Paulo, BrazilNational Institutes of Health National Human Genome Research Institute: 1U54HG006493National Institutes of Health National Human Genome Research Institute: 1RC2HG005608National Institutes of Health National Human Genome Research Institute: 5RO1HG004316Life Sciences Discovery Fund: 2065508Life Sciences Discovery Fund: 0905001Web of Science621-626engCell PressAmerican Journal of Human GeneticsMutations in KCTD1 Cause Scalp-Ear-Nipple Syndromeinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESPORIGINALWOS000317449700015.pdfapplication/pdf640947${dspace.ui.url}/bitstream/11600/36197/1/WOS000317449700015.pdf9aa4db55e7b2e744a15ca5a127e62659MD51open accessTEXTWOS000317449700015.pdf.txtWOS000317449700015.pdf.txtExtracted texttext/plain26015${dspace.ui.url}/bitstream/11600/36197/2/WOS000317449700015.pdf.txte0e36201a168cb458e07ccc6e20e2271MD52open access11600/361972023-02-15 11:39:38.129open accessoai:repositorio.unifesp.br:11600/36197Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestopendoar:34652023-02-15T14:39:38Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.en.fl_str_mv |
Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome |
title |
Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome |
spellingShingle |
Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome Marneros, Alexander G. |
title_short |
Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome |
title_full |
Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome |
title_fullStr |
Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome |
title_full_unstemmed |
Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome |
title_sort |
Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome |
author |
Marneros, Alexander G. |
author_facet |
Marneros, Alexander G. Beck, Anita E. Turner, Emily H. McMillin, Margaret J. Edwards, Matthew J. Field, Michael Sobreira, Nara Lygia de Macena Perez, Ana Beatriz Alvares [UNIFESP] Fortes, Jose A. R. Lampe, Anne K. Uzielli, Maria Luisa Giovannucci Gordon, Christopher T. Plessis, Ghislaine Le Merrer, Martine Amiel, Jeanne Reichenberger, Ernst Shively, Kathryn M. Cerrato, Felecia Labow, Brian I. Tabor, Holly K. Smith, Joshua D. Shendure, Jay Nickerson, Deborah A. Bamshad, Michael J. Univ Washington |
author_role |
author |
author2 |
Beck, Anita E. Turner, Emily H. McMillin, Margaret J. Edwards, Matthew J. Field, Michael Sobreira, Nara Lygia de Macena Perez, Ana Beatriz Alvares [UNIFESP] Fortes, Jose A. R. Lampe, Anne K. Uzielli, Maria Luisa Giovannucci Gordon, Christopher T. Plessis, Ghislaine Le Merrer, Martine Amiel, Jeanne Reichenberger, Ernst Shively, Kathryn M. Cerrato, Felecia Labow, Brian I. Tabor, Holly K. Smith, Joshua D. Shendure, Jay Nickerson, Deborah A. Bamshad, Michael J. Univ Washington |
author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author |
dc.contributor.institution.none.fl_str_mv |
Massachusetts Gen Hosp Univ Washington Univ Western Sydney Macarthur Genet Learning Disabil Serv Johns Hopkins Univ Universidade Federal de São Paulo (UNIFESP) Pontificia Univ Catolica Parana Western Gen Hosp Univ Florence Hop Necker Enfants Malad Univ Paris Descartes Sorbonne Paris Cite Hop Cote Nacre Univ Connecticut Boston Childrens Hosp Treuman Katz Ctr Pediat Bioeth |
dc.contributor.author.fl_str_mv |
Marneros, Alexander G. Beck, Anita E. Turner, Emily H. McMillin, Margaret J. Edwards, Matthew J. Field, Michael Sobreira, Nara Lygia de Macena Perez, Ana Beatriz Alvares [UNIFESP] Fortes, Jose A. R. Lampe, Anne K. Uzielli, Maria Luisa Giovannucci Gordon, Christopher T. Plessis, Ghislaine Le Merrer, Martine Amiel, Jeanne Reichenberger, Ernst Shively, Kathryn M. Cerrato, Felecia Labow, Brian I. Tabor, Holly K. Smith, Joshua D. Shendure, Jay Nickerson, Deborah A. Bamshad, Michael J. Univ Washington |
description |
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 (KCTD1) mutations that cause SEN syndrome. Evaluation of a total of ten families affected by SEN syndrome revealed KCTD1 missense mutations in each family tested. All of the mutations occurred in a KCTD1 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-2 alpha (TFAP2A) via its BTB domain, and mutations in TFAP2A cause cutis aplasia in individuals with branchiooculofacial syndrome (BOFS), suggesting a potential overlap in the pathogenesis of SEN syndrome and BOFS. the identification of KCTD1 mutations in SEN syndrome reveals a role for this BTB-domain-containing transcriptional repressor during ectodermal development. |
publishDate |
2013 |
dc.date.issued.fl_str_mv |
2013-04-04 |
dc.date.accessioned.fl_str_mv |
2016-01-24T14:31:34Z |
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2016-01-24T14:31:34Z |
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dc.identifier.citation.fl_str_mv |
American Journal of Human Genetics. Cambridge: Cell Press, v. 92, n. 4, p. 621-626, 2013. |
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http://repositorio.unifesp.br/handle/11600/36197 http://dx.doi.org/10.1016/j.ajhg.2013.03.002 |
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0002-9297 |
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WOS000317449700015.pdf |
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10.1016/j.ajhg.2013.03.002 |
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WOS:000317449700015 |
identifier_str_mv |
American Journal of Human Genetics. Cambridge: Cell Press, v. 92, n. 4, p. 621-626, 2013. 0002-9297 WOS000317449700015.pdf 10.1016/j.ajhg.2013.03.002 WOS:000317449700015 |
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http://repositorio.unifesp.br/handle/11600/36197 http://dx.doi.org/10.1016/j.ajhg.2013.03.002 |
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Cell Press |
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Cell Press |
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