Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Journal
Nature genetics
ISSN: 1546-1718
Titre abrégé: Nat Genet
Pays: United States
ID NLM: 9216904
Informations de publication
Date de publication:
10 2019
10 2019
Historique:
received:
19
12
2016
accepted:
15
08
2019
pubmed:
2
10
2019
medline:
23
1
2020
entrez:
2
10
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31570889
doi: 10.1038/s41588-019-0498-4
pii: 10.1038/s41588-019-0498-4
pmc: PMC6858542
mid: NIHMS1537602
doi:
Substances chimiques
RHOA protein, human
124671-05-2
rhoA GTP-Binding Protein
EC 3.6.5.2
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1438-1441Subventions
Organisme : NICHD NIH HHS
ID : P01 HD067244
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS105477
Pays : United States
Organisme : CIHR
ID : MOP-G-287547
Pays : Canada
Commentaires et corrections
Type : ErratumIn
Type : ErratumIn
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