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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.

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Presentation on theme: "Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears  Christopher T. Gordon, Florence Petit, Peter M."— Presentation transcript:

1 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 (December 2013) DOI: /j.ajhg Copyright © 2013 The American Society of Human Genetics Terms and Conditions

2 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  , DOI: ( /j.ajhg ) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

3 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  , DOI: ( /j.ajhg ) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

4 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_ ), mouse EDN1 (RefSeq NP_ ), zebrafish Edn1 (RefSeq NP_ ), human EDN3 (RefSeq NP_ ), and mouse EDN3 (RefSeq NP_ ). 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  , DOI: ( /j.ajhg ) Copyright © 2013 The American Society of Human Genetics Terms and Conditions

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