Postzygotic inactivating mutations of <em>RHOA</em> cause a mosaic neuroectodermal syndrome - Lipides Nutrition Cancer - UMR866 Accéder directement au contenu
Article Dans Une Revue Nature Genetics Année : 2019

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Bénédicte Demeer
Esther Carmi
  • Fonction : Auteur
Bernard Devauchelle
Catherine Gondry-Jouet
  • Fonction : Auteur
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  • IdRef : 07030467X

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.

Dates et versions

hal-02622254 , version 1 (26-05-2020)

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Pierre Vabres, Arthur Sorlin, Stanislav S. Kholmanskikh, Bénédicte Demeer, Judith St Onge, et al.. Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nature Genetics, 2019, 51 (10), pp.1438-1441. ⟨10.1038/s41588-019-0498-4⟩. ⟨hal-02622254⟩
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