Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears Christopher T. Gordon, Florence Petit, Peter M.

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Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears Christopher T. Gordon, Florence Petit, Peter M. Kroisel, Linda Jakobsen, Roseli Maria Zechi-Ceide, Myriam Oufadem, Christine Bole- Feysot, Solenn Pruvost, Cécile Masson, Frédéric Tores, Thierry Hieu, Patrick Nitschké, Pernille Lindholm, Philippe Pellerin, Maria Leine Guion-Almeida, Nancy Mizue Kokitsu-Nakata, Siulan Vendramini-Pittoli, Arnold Munnich, Stanislas Lyonnet, Muriel Holder-Espinasse, Jeanne Amiel The American Journal of Human Genetics Volume 93, Issue 6, Pages 1118-1125 (December 2013) DOI: 10.1016/j.ajhg.2013.10.023 Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 1 Craniofacial Features of ACS and IQME Individuals Families F1 (A), F2, (B), and F3 (C). The numbering of individuals refers to the pedigrees in Figure 2. In (A), right and left lateral CT scans of individual II:3 are presented (black arrows indicate proximal mandibular hypoplasia, and the white arrow indicates the thickened zygomatic process of the right temporal bone), and an intraoral view of individual II:4 depicts the bifid uvula with adjacent ectopic tissue. The American Journal of Human Genetics 2013 93, 1118-1125DOI: (10.1016/j.ajhg.2013.10.023) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 2 EDN1 Mutations and Their Segregation in ACS- or IQME-Affected Families F1–F3 and Simplex Case S1 “EX” indicates those individuals submitted to exome sequencing. The relevant EDN1 genotype is indicated for all those individuals whose DNA was available for testing. The American Journal of Human Genetics 2013 93, 1118-1125DOI: (10.1016/j.ajhg.2013.10.023) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

Figure 3 PreproEDN1 Domain Structure and Positions of Amino Acids Affected by Mutations In the diagram at the top, bigEDN1 is shown in two shades of gray (the mature 21 amino acid peptide is the darker shade). Open arrowheads indicate furin cleavage sites. A filled arrowhead indicates the ECE cleavage site. Red arrows indicate the positions of substitutions identified in this report. The lower part of the figure is a multiple-sequence alignment of big endothelins and surrounding furin cleavage sites from selected species. Sequences used in the alignment were human EDN1 (RefSeq NP_001946.3), mouse EDN1 (RefSeq NP_034234.1), zebrafish Edn1 (RefSeq NP_571594.1), human EDN3 (RefSeq NP_000105.1), and mouse EDN3 (RefSeq NP_031929.1). The numbering above the alignment refers to the 21 amino acid mature peptide. Residues underlined with a red bar are affected by mutations in human EDN1 (this report), zebrafish edn1,11 human EDN3,1,22–25 and mouse Edn326,27 (see text for details). Black bars under the alignment indicate the two four-residue furin recognition sites. SP stands for signal peptide. The American Journal of Human Genetics 2013 93, 1118-1125DOI: (10.1016/j.ajhg.2013.10.023) Copyright © 2013 The American Society of Human Genetics Terms and Conditions