Vabres, P;
Sorlin, A;
Kholmanskikh, SS;
Demeer, B;
St-Onge, J;
Duffourd, Y;
Kuentz, P;
... Riviere, J-B; + view all
(2019)
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Nature Genetics
, 51
pp. 1438-1441.
10.1038/s41588-019-0498-4.
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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.
| Type: | Article |
|---|---|
| Title: | Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1038/s41588-019-0498-4 |
| Publisher version: | https://doi.org/10.1038/s41588-019-0498-4 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10109767 |
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