Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

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 towards elucidating the etiology of pigmentary mosaicism and highlight the role of RHOA in human development and disease.
Editorial summary Postzygotic inactivating mutations in RHOA cause a mosaic neuroectodermal syndrome characterized by linear hypopigmentation, leukoencephalopathy, and craniofacial anomalies, highlighting the role of RHOA in human development and disease.