Yavuz Bayram, Janson J. White, Nursel Elcioglu, Megan T

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REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis Yavuz Bayram, Janson J. White, Nursel Elcioglu, Megan T. Cho, Neda Zadeh, Asuman Gedikbasi, Sukru Palanduz, Sukru Ozturk, Kivanc Cefle, Ozgur Kasapcopur, Zeynep Coban Akdemir, Davut Pehlivan, Amber Begtrup, Claudia M.B. Carvalho, Ingrid Sophie Paine, Ali Mentes, Kivanc Bektas-Kayhan, Ender Karaca, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski The American Journal of Human Genetics Volume 101, Issue 1, Pages 149-156 (July 2017) DOI: 10.1016/j.ajhg.2017.06.006 Copyright © 2017 American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees and Gingival Photographs of the Individuals Studied Black-filled boxes indicate affected individuals in families 1 (A), 2 (B), and 3 (C) and checkerboard-filled box indicates mildly affected father in family 1. Visual inspection reveals the gingival overgrowth. Note the mild GF prominently involving the mandibular arch (yellow arrow) in the father (BAB4124, I-1) in family 1. The American Journal of Human Genetics 2017 101, 149-156DOI: (10.1016/j.ajhg.2017.06.006) Copyright © 2017 American Society of Human Genetics Terms and Conditions

Figure 2 Segregation Analyses and Gene Variant Distributions in Three Families (A) Sanger sequencing confirmed that the mother (I-2) is wild-type and both affected siblings (II-1 and II-2) are heterozygous carriers for the c.2865_2866delAA variant in family 1. The mildly affected father (I-1) was also found to have two wild-type alleles in his blood sample; however, Sanger sequencing of the buccal smear sample revealed evidence for subtle secondary peaks that begin at the position in the sequence of the frameshift variant observed in the two affected children. In families 2 and 3, Sanger sequencing confirmed that all affected individuals have the WES-identified heterozygous variant (c.1310T>A and c.2413delC, respectively) and the unaffected individuals are wild-type. (B) Exonic structure and map position of variant alleles from three unrelated families; note all occur in last exon. (C) Schematic representations of protein structure with indicated domains of REST mapped to gene exonic structure above showing localization of the identified variants in our study (red arrows) and previously reported variants in individuals with Wilms tumor (black arrows). Green rectangles indicate zinc-finger DNA-binding domains. The American Journal of Human Genetics 2017 101, 149-156DOI: (10.1016/j.ajhg.2017.06.006) Copyright © 2017 American Society of Human Genetics Terms and Conditions