Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome Josephina A.N. Meester, Laura Southgate, Anna-Barbara Stittrich, Hanka Venselaar,

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Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome Josephina A.N. Meester, Laura Southgate, Anna-Barbara Stittrich, Hanka Venselaar, Sander J.A. Beekmans, Nicolette den Hollander, Emilia K. Bijlsma, Appolonia Helderman-van den Enden, Joke B.G.M. Verheij, Gustavo Glusman, Jared C. Roach, Anna Lehman, Millan S. Patel, Bert B.A. de Vries, Claudia Ruivenkamp, Peter Itin, Katrina Prescott, Sheila Clarke, Richard Trembath, Martin Zenker, Maja Sukalo, Lut Van Laer, Bart Loeys, Wim Wuyts The American Journal of Human Genetics Volume 97, Issue 3, Pages 475-482 (September 2015) DOI: 10.1016/j.ajhg.2015.07.015 Copyright © 2015 The American Society of Human Genetics Terms and Conditions

Figure 1 Mutation Analysis (A) Pedigrees of the families with their respective mutations and nucleotide sequences. (B) Structure of DLL4 with the structural domains and the identified mutations. (C) Conservation of specific residues among species and NOTCH ligands. The American Journal of Human Genetics 2015 97, 475-482DOI: (10.1016/j.ajhg.2015.07.015) Copyright © 2015 The American Society of Human Genetics Terms and Conditions

Figure 2 Clinical Features (A) Individual 2-II-1 with brachydactyly of the left foot and missing toes on the right foot. (B) Individual 5-II-17 with a bald area on the scalp. (C) Individual 5-II-17 with brachydactyly of toes. (D) Individual 5-II-17 with brachydactyly of fingers. (E) Individual 5-IV-12 with aplasia cutis congenita. (F) Individual 6-II-1 with aplasia cutis congenita. (G) Individual 8-II-1 with short distal phalangus of the middle finger and symphalangism of the index finger on the right hand. (H) Individual 8-II-1 with aplasia cutis congenita. (I) Individual 8-II-1 with symbrachydactyly of both feet. The American Journal of Human Genetics 2015 97, 475-482DOI: (10.1016/j.ajhg.2015.07.015) Copyright © 2015 The American Society of Human Genetics Terms and Conditions