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Title: Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome
Authors: 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
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
Issue Date: 4-Apr-2013
Publisher: Cell Press
Citation: American Journal of Human Genetics. Cambridge: Cell Press, v. 92, n. 4, p. 621-626, 2013.
Abstract: 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.
ISSN: 0002-9297
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