Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Buket Ü. Basmanav,1,2,3 Laura Cau,4,23 Aylar Tafazzoli,1,23 Marie-Claire Méchin,4,23 Sabrina Wolf,1 Maria Teresa Romano,1 Frederic Valentin,5 Henning Wiegmann,5 Anne Huchenq,4 Rima Kandil,1 Natalie Garcia Bartels,6 Arzu Kilic,7 Susannah George,8 Damian J. Ralser,1 Stefan Bergner,1 David J.P. Ferguson,9 Ana-Maria Oprisoreanu,10 Maria Wehner,1 Holger Thiele,11 Janine Altmüller,11,12 Peter Nürnberg,11,13,14 Daniel Swan,15 Darren Houniet,15 Aline Büchner,16 Lisa Weibel,16,17 Nicola Wagner,18 Ramon Grimalt,19 Anette Bygum,20 Guy Serre,4 Ulrike Blume-Peytavi,6 Eli Sprecher,21 Susanne Schoch,10 Vinzenz Oji,5 Henning Hamm,22 Paul Farrant,8 Michel Simon,4,23 and Regina C. Betz1,23,*
1 Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany;
2 Department of Neuro- and Sensory Physiology, University Medical Center Göttingen, 37073 Göttingen, Germany;
3 Campus Laboratory for Advanced Imaging, Microscopy and Spectroscopy, University of Göttingen, 37073 Göttingen, Germany;
4 CNRS UMR5165 and INSERM U1056 and University of Toulouse, 31059 Toulouse, France; 5 Department of Dermatology, University of Münster, 48149 Münster, Germany;
6 Clinical Research Center for Hair and Skin Science, Department of Dermatology and Allergy, Charité-Universitätsmedizin Berlin, Berlin 10117, Germany;
7 Dermatology Department, Balikesir University School of Medicine, 10100 Balikesir, Turkey;
8 Dermatology Department, Brighton and Sussex University Hospitals NHS Trust, Brighton General Hospital, Elm Grove, Brighton BN2 3EW, UK;
9 Nuffield Department of Clinical Laboratory Science, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK;
10 Department of Neuropathology and Department of Epileptology, University of Bonn, 53127 Bonn, Germany;
11 Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany;
12 Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany;
13 Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany;
14 Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50931 Cologne, Germany;
15 Computational Biology Group, Oxford Gene Technology, Oxford OX5 1PF, UK;
16 Pediatric Dermatology Department, University Children’s Hospital Zurich, University Hospital of Zurich, 8032 Zurich, Switzerland;
17 Dermatology Department, University Hospital Zurich, 8032 Zurich, Switzerland;
18 Clinical Center Darmstadt, 64297 Darmstadt, Germany;
19 Universitat Internacional de Catalunya, Sant Cugat del Vallès, 08195 Barcelona, Spain;
20 Department of Dermatology and Allergy Centre, Odense University Hospital, 5000 Odense, Denmark;
21 Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv 64239, Israel;
22 Department of Dermatology, Venereology, and Allergology, University Hospital Würzburg, 97080 Würzburg, Germany
23 These authors contributed equally to this work
The American Journal of Human Genetics, novembre 2016
DOI: 10.1016/j.ajhg.2016.10.004