Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome

Smail Hadj-Rabia (1, 2) , Gaelle Brideau (3) , Yasser Al-Sarraj (4) , Rachid C. Maroun (5) , Marie-Lucile Figueres (3) , Stéphanie Leclerc-Mercier (2, 6) , Eric Olinger (7) , Stéphanie Baron (3, 8) , Catherine Chaussain (9) , Dominique Nochy (10) , Rowaida Taha (4) , Bertrand Knebelmann (11) , Vandana Joshi (5) , Patrick Curmi (5) , Marios Kambouris (4, 12, 13) , Rosa Vargas-Poussou (14, 3) , Christine Bodemer (1, 2) , Olivier Devuyst (15) , Pascal Houillier (3, 8) , Hatem El-Shanti (4, 16, 17)

1 Service de dermatologie [CHU Necker]
2 IMAGINE - U1163 - Imagine - Institut des maladies génétiques
3 CRC (UMR_S_1138 / U1138) - Centre de Recherche des Cordeliers
4 QBRI - Qatar Biomedical Research Institute
5 SABNP - Structure et activité des biomolécules normales et pathologiques
6 Service de pathologie [CHU Necker]
7 Institute of Physiology, University of Zurich, Zurich, Switzerland
8 Service de Physiologie [Georges-Pompidou]
9 Service d'Odontologie [Bretonneau]
10 Département de Pathologie [AP-HP Hôpital Européen Georges Pompidou]
11 Service de néphrologie pédiatrique [CHU Necker]
12 YSM - Yale School of Medicine [New Haven, Connecticut]
13 Sidra Medical and Research Center
14 Service de Génétique [CHU HEGP]
15 Institute of Physiology, University of Zurich, Zurich, Switzerland
16 Department of Pediatrics and Holden Comprehensive Cancer Center [Iowa City, USA]
17 JU - The University of Jordan

Keywords: tight junctions; paracellular transport; multiple epitheliadysfunction; ectodermal glands; CLDN10

Domains: Life Sciences [q-bio]

Smail Hadj-Rabia, Gaelle Brideau, Yasser Al-Sarraj, Rachid C. Maroun, Marie-Lucile Figueres, et al.. Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome. Genetics in Medicine, 2018, 20 (2), pp.190-201. ⟨10.1038/gim.2017.71⟩. ⟨hal-02173103⟩