Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Nat Genet
; 51(10): 1438-1441, 2019 10.
Article
en En
| MEDLINE
| ID: mdl-31570889
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.
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1
Base de datos:
MEDLINE
Asunto principal:
Cigoto
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Pigmentación de la Piel
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Síndromes Neurocutáneos
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Proteína de Unión al GTP rhoA
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Mosaicismo
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Mutación
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2019
Tipo del documento:
Article