期刊
NATURE GENETICS
卷 51, 期 10, 页码 1438-+出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/s41588-019-0498-4
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资金
- Agence Nationale de la Recherche [ANR-13-PDOC-0029]
- Programme Hospitalier de Recherche Clinique National 2010 [NCT01950975]
- NIH [HD067244]
- Societe Francaise de Dermatologie
- Fonds de Recherche du Quebec en Sante
- Canadian Institute for Health Research [MOP-G-287547, 24805]
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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