Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome

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Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome Alexander G. Marneros, Anita E. Beck, Emily H. Turner, Margaret J. McMillin, Matthew J. Edwards, Michael Field, Nara Lygia de Macena Sobreira, Ana Beatriz A. Perez, Jose A.R. Fortes, Anne K. Lampe, Maria Luisa Giovannucci Uzielli, Christopher T. Gordon, Ghislaine Plessis, Martine Le Merrer, Jeanne Amiel, Ernst Reichenberger, Kathryn M. Shively, Felecia Cerrato, Brian I. Labow, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad The American Journal of Human Genetics Volume 92, Issue 4, Pages 621-626 (April 2013) DOI: 10.1016/j.ajhg.2013.03.002 Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 1 Characteristic Physical Findings in Individuals with SEN Syndrome Clinical characteristics of SEN syndrome include cutis aplasia of the vertex of the scalp (A, B, and D), minor external ear defects, such as overfolded helix and anteverted ears (C and F), and aplasia of the nipples and sparse or absent secondary sexual hair (G and H). Less common findings include syndactyly and nail dysplasia (E) and craniofacial malformations such as telecanthus, a broad, flat nasal bridge, and frontal bossing (F). Case identifiers E:III-1 (A–C), F:II-1 (F), J:I-1 (D and H), and J:II-1 (E and G) correspond to those in Table 1 and Table S1, where a detailed description of the phenotype of each affected individual is provided. The American Journal of Human Genetics 2013 92, 621-626DOI: (10.1016/j.ajhg.2013.03.002) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 2 Pedigrees of Families A–J Pedigrees illustrating the relationships and affected status of ten families affected by SEN syndrome. Case identifiers correspond to those in Table 1 and Table S1. Grey dots indicate individuals who underwent exome sequencing. Plus signs (+) indicate individuals in whom mutations were identified, and minus signs (–) indicate individuals in whom no mutation was found. Family A individuals with a plus or minus sign (except individuals IV-14 and V-6) were also included in the linkage analysis. The American Journal of Human Genetics 2013 92, 621-626DOI: (10.1016/j.ajhg.2013.03.002) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 3 Genomic Structure and Allelic Spectrum of KCTD1 Mutations that Cause SEN Syndrome KCTD1 is composed of five exons that encode UTRs (orange) and protein-coding-sequence domains (blue), including a BTB domain (red). Arrows indicate the locations of ten different mutations found in ten families affected by SEN syndrome. Carrots indicate mutations that were confirmed to be de novo. Deduced amino acid sequences of partial KCTD1 in multiple species are shown. Locations of amino acid residues affected by KCTD1 mutations are shaded. The American Journal of Human Genetics 2013 92, 621-626DOI: (10.1016/j.ajhg.2013.03.002) Copyright © 2013 The American Society of Human Genetics Terms and Conditions