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 Lafon; Michèle 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

doi:10.1038/s41588-019-0498-4

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

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Abstract

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 language	English (US)
Pages (from-to)	1438-1441
Number of pages	4
Journal	Nature Genetics
Volume	51
Issue number	10
DOIs	https://doi.org/10.1038/s41588-019-0498-4
State	Published - Oct 1 2019
Externally published	Yes

Bibliographical note

Funding Information:
We thank the participants and families involved in the study. We also thank the University of Burgundy Centre de Calcul (https://haydn2005.u-bourgogne.fr/dsi-ccub/) 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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Vabres, P., Sorlin, A., Kholmanskikh, S. S., Demeer, B., St-Onge, J., Duffourd, Y., Kuentz, P., Courcet, J. B., Carmignac, V., Garret, P., Bessis, D., Boute, O., Bron, A., Captier, G., Carmi, E., Devauchelle, B., Geneviève, D., Gondry-Jouet, C., Guibaud, L., ... Rivière, J. B. (2019). Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nature Genetics, 51(10), 1438-1441. https://doi.org/10.1038/s41588-019-0498-4

Vabres, P, Sorlin, A, Kholmanskikh, SS, Demeer, B, St-Onge, J, Duffourd, Y, Kuentz, P, Courcet, JB, Carmignac, V, Garret, P, Bessis, D, Boute, O, Bron, A, Captier, G, Carmi, E, Devauchelle, B, Geneviève, D, Gondry-Jouet, C, Guibaud, L, Lafon, A, Mathieu-Dramard, M, Thevenon, J, Dobyns, WB, Bernard, G, Polubothu, S, Faravelli, F, Kinsler, VA, Thauvin, C, Faivre, L, Ross, ME & Rivière, JB 2019, 'Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome', Nature Genetics, vol. 51, no. 10, pp. 1438-1441. https://doi.org/10.1038/s41588-019-0498-4

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title = "Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome",

abstract = "Hypopigmentation along Blaschko{\textquoteright}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.",

author = "Pierre Vabres and Arthur Sorlin and Kholmanskikh, {Stanislav S.} and B{\'e}n{\'e}dicte Demeer and Judith St-Onge and Yannis Duffourd and Paul Kuentz and Courcet, {Jean Beno{\^i}t} and Virginie Carmignac and Philippine Garret and Didier Bessis and Odile Boute and Alain Bron and Guillaume Captier and Esther Carmi and Bernard Devauchelle and David Genevi{\`e}ve and Catherine Gondry-Jouet and Laurent Guibaud and Arnaud Lafon and Mich{\`e}le Mathieu-Dramard and Julien Thevenon and Dobyns, {William B.} and Genevi{\`e}ve Bernard and Satyamaanasa Polubothu and Francesca Faravelli and Kinsler, {Veronica A.} and Christel Thauvin and Laurence Faivre and Ross, {M. Elizabeth} and Rivi{\`e}re, {Jean Baptiste}",

note = "Funding Information: We thank the participants and families involved in the study. We also thank the University of Burgundy Centre de Calcul (https://haydn2005.u-bourgogne.fr/dsi-ccub/) 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 Soci{\'e}t{\'e} Fran{\c c}aise de Dermatologie. G.B. has received a Research Scholar Junior 1 (2012–2016) salary award from the Fonds de Recherche du Qu{\'e}bec en Sant{\'e} and the New Investigator salary award (2017–2022) from the Canadian Institute for Health Research (no. MOP-G-287547, file no. 24805). Publisher Copyright: {\textcopyright} 2019, The Author(s), under exclusive licence to Springer Nature America, Inc.",

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AU - Vabres, Pierre

AU - Sorlin, Arthur

AU - Kholmanskikh, Stanislav S.

AU - Demeer, Bénédicte

AU - St-Onge, Judith

AU - Duffourd, Yannis

AU - Kuentz, Paul

AU - Courcet, Jean Benoît

AU - Carmignac, Virginie

AU - Garret, Philippine

AU - Bessis, Didier

AU - Boute, Odile

AU - Bron, Alain

AU - Captier, Guillaume

AU - Carmi, Esther

AU - Devauchelle, Bernard

AU - Geneviève, David

AU - Gondry-Jouet, Catherine

AU - Guibaud, Laurent

AU - Lafon, Arnaud

AU - Mathieu-Dramard, Michèle

AU - Thevenon, Julien

AU - Dobyns, William B.

AU - Bernard, Geneviève

AU - Polubothu, Satyamaanasa

AU - Faravelli, Francesca

AU - Kinsler, Veronica A.

AU - Thauvin, Christel

AU - Faivre, Laurence

AU - Ross, M. Elizabeth

AU - Rivière, Jean Baptiste

N1 - Funding Information: We thank the participants and families involved in the study. We also thank the University of Burgundy Centre de Calcul (https://haydn2005.u-bourgogne.fr/dsi-ccub/) 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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N2 - 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.

AB - 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.

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Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Abstract

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