Unknown

Dataset Information

0

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

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.

SUBMITTER: Vabres P 

PROVIDER: S-EPMC6858542 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Vabres Pierre P   Sorlin Arthur A   Kholmanskikh Stanislav S SS   Demeer Bénédicte B   St-Onge Judith J   Duffourd Yannis Y   Kuentz Paul P   Courcet Jean-Benoît JB   Carmignac Virginie V   Garret Philippine P   Bessis Didier D   Boute Odile O   Bron Alain A   Captier Guillaume G   Carmi Esther E   Devauchelle Bernard B   Geneviève David D   Gondry-Jouet Catherine C   Guibaud Laurent L   Lafon Arnaud A   Mathieu-Dramard Michèle M   Thevenon Julien J   Dobyns William B WB   Bernard Geneviève G   Polubothu Satyamaanasa S   Faravelli Francesca F   Kinsler Veronica A VA   Thauvin Christel C   Faivre Laurence L   Ross M Elizabeth ME   Rivière Jean-Baptiste JB  

Nature genetics 20190930 10

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  ...[more]

Similar Datasets

Unknown Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
| S-EPMC3508359 | biostudies-literature
Unknown Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.
| S-EPMC3370283 | biostudies-literature
Genomics Postzygotic Mutations
| PRJEB5017 | ENA
Unknown Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
| S-EPMC5672813 | biostudies-literature
Unknown p190A inactivating mutations cause aberrant RhoA activation and promote malignant transformation via the Hippo-YAP pathway in endometrial cancer.
| S-EPMC7250911 | biostudies-literature
Unknown Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
| S-EPMC1285169 | biostudies-literature
Transcriptomics INTS8 mutations cause severe neurodevelopmental syndrome
2017-05-17 | E-GEOD-76878 | biostudies-arrayexpress
Transcriptomics INTS8 mutations cause severe neurodevelopmental syndrome
2017-05-17 | GSE76878 | GEO
Unknown Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
| S-EPMC4800051 | biostudies-literature
Unknown Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.
| S-EPMC4547531 | biostudies-literature