Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome Academic Article uri icon

Overview

MeSH Major

  • Abnormalities, Multiple
  • Cyclin D2
  • Hydrocephalus
  • Malformations of Cortical Development
  • Megalencephaly
  • Polydactyly

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.

authors

publication date

  • October 2019

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed Central ID

  • PMC6858542

Digital Object Identifier (DOI)

  • 10.1038/s41588-019-0498-4

PubMed ID

  • 31570889

Additional Document Info

start page

  • 1438

end page

  • 1441

volume

  • 51

number

  • 10