Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D

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Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D Margaret J. McMillin, Jennifer E. Below, Kathryn M. Shively, Anita E. Beck, Heidi I. Gildersleeve, Jason Pinner, Gloria R. Gogola, Jacqueline T. Hecht, Dorothy K. Grange, David J. Harris, Dawn L. Earl, Sujatha Jagadeesh, Sarju G. Mehta, Stephen P. Robertson, James M. Swanson, Elaine M. Faustman, Heather C. Mefford, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad The American Journal of Human Genetics Volume 92, Issue 1, Pages 150-156 (January 2013) DOI: 10.1016/j.ajhg.2012.11.014 Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree and Clinical Features of Family A Pedigree showing the relationships and affected status of family A. Typical features of the face include unilateral ptosis, a round-shaped face, a small jaw, a bulbous upturned nose, and arched eyebrows. Camptodactyly and severely adducted thumbs are also present. Case identifiers A:V-1 (images A and D), A:IV-6 (images B and E [left]), and A:IV-5 (images C and E [right]) correspond to those in Table 1, where a detailed description of each individual is provided. The proband is indicated with an arrow. Asterisks indicate individuals in whom whole-genome sequencing (WGS) was performed. Red dots indicate individuals from whom genotype data were included in analysis of linkage under a recessive model. Open red squares indicate individuals who were included in the recessive model and from whom genotype data were unavailable. Blue dots indicate individuals from whom genotype data were included in analysis of linkage under a dominant model. Open blue squares indicate individuals who were included in the dominant model and from whom genotype data were unavailable. Larger and more detailed images are presented in Figures S1 and S4. The American Journal of Human Genetics 2013 92, 150-156DOI: (10.1016/j.ajhg.2012.11.014) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 2 Genomic Structure and Allelic Spectrum of ECEL1 Mutations that Cause DA5D ECEL1 is composed of 18 exons that encode UTRs (orange) and protein-coding-sequence domains (blue), including cytoplasmic (red), transmembrane (orange), and extracellular (gold) domains and the activation site (black). Arrows indicate the locations of nine different mutations found in five families affected by DA5D. The † symbol indicates mutations that were confirmed to be inherited from the parents. The American Journal of Human Genetics 2013 92, 150-156DOI: (10.1016/j.ajhg.2012.11.014) Copyright © 2013 The American Society of Human Genetics Terms and Conditions