Véronique Pingault Assistant professor in molecular genetics, PhD, HDR

Course and current status

Since sept 2002:  Assistant Professor in molecular genetics, Henri Mondor hospital and Medical School, Créteil.

2013:         “Habilitation à Diriger les Recherches”, University of Paris-Est-Creteil (UPEC).

2003 - 2007: Team leader “Avenir” at INSERM, Henri Mondor hospital, Créteil.

Sept 2001 - feb 2003: post-doctoral fellowship, Pr David P Corey, Neurobiology, Harvard Medical School, Boston.

1999:         PhD in Human Genetics. University Paris XII.

1996:         Doctorate in Pharmacy and certification in Medical Biology. University Paris V.

5 main publications:

Pingault V, Bodereau V, Baral V, Marcos S, Watanabe Y, Chaoui A, Fouveaut C, Leroy C, Vérier-Mine O, Francannet C, Dupin-Deguine D, Archambeaud F, Kurtz F-J, Young J, Bertherat J, Marlin S, Goossens M, Hardelin J-P, Dodé C, Bondurand N. Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness. Am J Hum Genet, 2013; 92:707-724

Bondurand N, Fouquet V, Baral V, Lecerf L, Loundon N, Goossens M, Duriez B, Labrune P, Pingault V. Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4. Eur J Hum Genet, 2012; 20:990-994

Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski L, Reardon W, Toutain A, Sarda P, Echaieb A, Lackmy-Port-Lis M, Touraine R, Amiel J, Goossens M, Pingault V. Deletions at the SOX10 gene locus cause Waardenburg syndromes type 2 and 4. Am J Hum Genet, 2007; 81:1169-1185

Pingault V, Guiochon-Mantel A, Bondurand N, Faure C, Lacroix C, Lyonnet S, Goossens M, Landrieu P. Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental “ neural crest syndrome ” related to a SOX10 mutation. Ann Neurol, 2000; 48:671-676

Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Préhu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Clayton Smith J, Read AP, Wegner M, Goossens M. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet, 1998; 18: 171-173

Reviews:

Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Review and update of mutations causing Waardenburg syndrome. Hum Mutat, 2010; 31:391-406

Scientific summary

Research projects developed in our group mainly focus on the understanding of molecular and cellular bases of Waardenburg syndrome (WS), a a rare genetic disorder due to abnormal development of the Neural crest.  We pay particular attention to the SOX10 transcription factor function and "interactome".

In 1998, we identified the first mutations of SOX10 in patients presenting with Waardenburg syndrome type 4 (WS4) which is defined by the association of intestinal aganglionosis characteristic of Hirschsprung disease (HSCR, absence of enteric ganglia along a variable portion of the distal gastrointestinal tract which results in the contraction of the aganglionic gut segment and functional intestinal obstruction) with the pigmentation defects and deafness characteristic of WS. Since then, we have been at the heart of genetic studies highlighting involvement of this gene in endophenotypes or related disorders (WS2, PCW, PCWH, isolated HSCR and more recently in Kallmann syndrome).

Since 2003, we also developed in vitro tools required to test functional consequences of each mutation identified in the SOX10 gene or its regulatory sequences. In parallel, we use mouse models to study genetic interactions taking place between Sox10 and other genes known to play key roles during enteric nervous system (ENS) development and have developed cellular models allowing the study of the role of ENS factors/signaling pathways in proliferation, migration, apoptosis and/or differentiation of enteric progenitors in a step by step procedure.

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