Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

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TitrePostzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
Type de publicationJournal Article
Year of Publication2019
AuteursVabres P, Sorlin A, Kholmanskikh SS, 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, Genevieve 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, M. Ross E, Riviere J-B
JournalNATURE GENETICS
Volume51
Pagination1438+
Date PublishedOCT
Type of ArticleArticle
ISSN1061-4036
Résumé

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.
DOI10.1038/s41588-019-0498-4