| Title | Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. |
| Publication Type | Journal Article |
| Year of Publication | 2019 |
| Authors | Vabres 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, 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, M Ross E, Rivière J-B |
| Journal | Nat Genet |
| Date Published | 2019 Sep 30 |
| ISSN | 1546-1718 |
| 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. |
| DOI | 10.1038/s41588-019-0498-4 |
| Alternate Journal | Nat. Genet. |
| PubMed ID | 31570889 |