Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Pierre Vabres, Arthur Sorlin, Stanislav S. Kholmanskikh, Bénédicte Demeer, Judith St-Onge, Yannis Duffourd, Paul Kuentz, Jean Benoît Courcet, Virginie Carmignac, Philippine Garret, Didier Bessis, Odile Boute, Alain Bron, Guillaume Captier, Esther Carmi, Bernard Devauchelle, David Geneviève, Catherine Gondry-Jouet, Laurent Guibaud, Arnaud LafonMichèle Mathieu-Dramard, Julien Thevenon, William B. Dobyns, Geneviève Bernard, Satyamaanasa Polubothu, Francesca Faravelli, Veronica A. Kinsler, Christel Thauvin, Laurence Faivre, M. Elizabeth Ross, Jean Baptiste Rivière

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


Hypopigmentation along Blaschko’s lines is a hallmark of a poorly defined group of mosaic syndromes whose genetic causes are unknown. Here we show that postzygotic inactivating mutations of RHOA cause a neuroectodermal syndrome combining linear hypopigmentation, alopecia, apparently asymptomatic leukoencephalopathy, and facial, ocular, dental and acral anomalies. Our findings pave the way toward elucidating the etiology of pigmentary mosaicism and highlight the role of RHOA in human development and disease.

Original languageEnglish (US)
Pages (from-to)1438-1441
Number of pages4
JournalNature Genetics
Issue number10
StatePublished - Oct 1 2019
Externally publishedYes

Bibliographical note

Funding Information:
We thank the participants and families involved in the study. We also thank the University of Burgundy Centre de Calcul ( for technical support and management of the informatics platform. This work was funded by the Agence Nationale de la Recherche (grant no. ANR-13-PDOC-0029 to J.-B.R.), the Programme Hospitalier de Recherche Clinique National 2010 (grant no. NCT01950975 to P.V.), the NIH (grant no. HD067244 to M.E.R.) and the Société Française de Dermatologie. G.B. has received a Research Scholar Junior 1 (2012–2016) salary award from the Fonds de Recherche du Québec en Santé and the New Investigator salary award (2017–2022) from the Canadian Institute for Health Research (no. MOP-G-287547, file no. 24805).

Publisher Copyright:
© 2019, The Author(s), under exclusive licence to Springer Nature America, Inc.


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