Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome

Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome

Autor Marneros, Alexander G. Google Scholar
Beck, Anita E. Google Scholar
Turner, Emily H. Google Scholar
McMillin, Margaret J. Google Scholar
Edwards, Matthew J. Google Scholar
Field, Michael Google Scholar
Sobreira, Nara Lygia de Macena Google Scholar
Perez, Ana Beatriz Alvares Autor UNIFESP Google Scholar
Fortes, Jose A. R. Google Scholar
Lampe, Anne K. Google Scholar
Uzielli, Maria Luisa Giovannucci Google Scholar
Gordon, Christopher T. Google Scholar
Plessis, Ghislaine Google Scholar
Le Merrer, Martine Google Scholar
Amiel, Jeanne Google Scholar
Reichenberger, Ernst Google Scholar
Shively, Kathryn M. Google Scholar
Cerrato, Felecia Google Scholar
Labow, Brian I. Google Scholar
Tabor, Holly K. Google Scholar
Smith, Joshua D. Google Scholar
Shendure, Jay Google Scholar
Nickerson, Deborah A. Google Scholar
Bamshad, Michael J. Google Scholar
Univ Washington Google Scholar
Instituição 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
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.
Idioma Inglês
Financiador National Institutes of Health National Human Genome Research Institute
Life Sciences Discovery Fund
Washington Research Foundation
Número do financiamento National Institutes of Health National Human Genome Research Institute: 1U54HG006493
National Institutes of Health National Human Genome Research Institute: 1RC2HG005608
National Institutes of Health National Human Genome Research Institute: 5RO1HG004316
Life Sciences Discovery Fund: 2065508
Life Sciences Discovery Fund: 0905001
Data de publicação 2013-04-04
Publicado em American Journal of Human Genetics. Cambridge: Cell Press, v. 92, n. 4, p. 621-626, 2013.
ISSN 0002-9297 (Sherpa/Romeo, fator de impacto)
Publicador Cell Press
Extensão 621-626
Fonte http://dx.doi.org/10.1016/j.ajhg.2013.03.002
Direito de acesso Acesso aberto Open Access
Tipo Artigo
Web of Science WOS:000317449700015
Endereço permanente http://repositorio.unifesp.br/handle/11600/36197

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