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A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndrome

Here, the authors have identified a mutation in the gene GNA13 in patients with hypomelanosis of Ito and developmental anomalies, which triggers excessive RHOA/ROCK signaling and actin polymerization, leading to melanocyte rounding and failure in melanosome transfer to keratinocytes.

Rana El Masri
Alberto Iannuzzo
Jérôme Delon
ResearchOpen Access18 Feb 2025
Nature Communications

Volume: 16, P: 1-15
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Pierre Vabres
Arthur Sorlin
Jean-Baptiste Rivière
Amendments and Corrections14 Oct 2019
Nature Genetics

Volume: 51, P: 1660
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Pierre Vabres
Arthur Sorlin
Jean-Baptiste Rivière
Amendments and Corrections07 Feb 2020
Nature Genetics

Volume: 52, P: 353
Author Correction: Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

Elodie Bal
Hyun-Sook Park
Asma Smahi
Amendments and Corrections06 Feb 2025
Nature Medicine

Volume: 31, P: 1364
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

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.

Pierre Vabres
Arthur Sorlin
Jean-Baptiste Rivière
Research30 Sept 2019
Nature Genetics

Volume: 51, P: 1438-1441
Correction: Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

Corine Bertolotto
Fabienne Lesueur
Brigitte Bressac-de Paillerets
Amendments and Corrections02 Dec 2015
Nature

Volume: 531, P: 126
Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis

Pascal Lefevre
Ariane Rochat
Alain Hovnanian
Research15 Jun 2000
European Journal of Human Genetics

Volume: 8, P: 273-279
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

Corine Bertolotto
Fabienne Lesueur
Brigitte Bressac-de Paillerets
Research19 Oct 2011
Nature

Volume: 480, P: 94-98
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

Jean- Benoît Courcet
Siham Chafai Elalaoui
Laurence Faivre
Research15 Oct 2014
European Journal of Human Genetics

Volume: 23, P: 957-962
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity

Frédéric Caux
Henri Plauchu
Michel Longy
Research28 Mar 2007
European Journal of Human Genetics

Volume: 15, P: 767-773
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

Virginie Carmignac
Cyril Mignot
Pierre Vabres
ResearchOpen Access08 Apr 2021
Genetics in Medicine

Volume: 23, P: 1484-1491
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

Victoria E. R. Parker
Kim M. Keppler-Noreuil
Leslie G. Biesecker
ResearchOpen Access01 Oct 2018
Genetics in Medicine

Volume: 21, P: 1189-1198
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

Inactivating mutations in ACTRT1 or surrounding noncoding sequences transcribed into functional enhancer RNAs cause aberrant activation of Hedgehog signaling in both sporadic and inherited forms, such as Bazex–Dupré–Christol syndrome, of basal cell carcinoma. These findings identify a new tumor-suppressor gene and underscore the functional relevance of genomic alterations in noncoding transcribed regions in tumor development.

Elodie Bal
Hyun-Sook Park
Asma Smahi
Research04 Sept 2017
Nature Medicine

Volume: 23, P: 1226-1233
A phase III study comparing preservative-free latanoprost eye drop emulsion with preserved latanoprost in open-angle glaucoma or ocular hypertension

Christophe Baudouin
Ingeborg Stalmans
Francesca Cordeiro
ResearchOpen Access25 Feb 2025
Eye

Volume: 39, P: 1599-1607
2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

Ange-Line Bruel
Antonio Vitobello
Christel Thauvin-Robinet
Research19 Dec 2018
Genetics in Medicine

Volume: 21, P: 1657-1661
Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel–Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study

M. Luu
P. Vabres
L. Faivre
ResearchOpen Access12 Aug 2021
Genetics in Medicine

Volume: 23, P: 2433-2442
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort

Philippine Garret
Martin Chevarin
Yannis Duffourd
Research01 Dec 2022
European Journal of Human Genetics

Volume: 31, P: 761-768
ARP-T1-associated Bazex–Dupré–Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies

Park et al. characterise the interactome, localisation and function of Actin-Related Protein-Testis1 protein (ARP-T1), encoded by the ACTRT1 gene, associated with inherited basal cell cancer. They find that ARP-T1 is localised to the primary cilia basal body in epidermal cells, interacts with the cilia machinery, and is needed for proper ciliogenesis.

Hyun-Sook Park
Eirini Papanastasi
Daniel Hohl
ResearchOpen Access10 May 2021
Communications Biology

Volume: 4, P: 1-13
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Thomas Besnard
Natacha Sloboda
Bertrand Isidor
Research06 Feb 2019
Genetics in Medicine

Volume: 21, P: 2025-2035
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

Christel Thauvin-Robinet
Julien Thevenon
Laurence Faivre
Research24 Apr 2019
European Journal of Human Genetics

Volume: 27, P: 1197-1214
Integrating longitudinal serum IL-17 and IL-23 follow-up, along with autoantibodies variation, contributes to predict bullous pemphigoid outcome

Julie Plée
Sébastien Le Jan
Philippe Bernard
ResearchOpen Access14 Dec 2015
Scientific Reports

Volume: 5, P: 1-11
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

Virginie Carmignac
Cyril Mignot
Pierre Vabres
Amendments and Corrections13 Jul 2021
Genetics in Medicine

Volume: 23, P: 1585
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Sophie Nambot
Julien Thevenon
Christel Thauvin-Robinet
Research02 Nov 2017
Genetics in Medicine

Volume: 20, P: 645-654
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Paul Kuentz
Judith St-Onge
Jean-Baptiste Rivière
Research02 Feb 2017
Genetics in Medicine

Volume: 19, P: 989-997
Response to Resta et al.

Virginie Carmignac
Pierre Vabres
Correspondence07 Jul 2021
Genetics in Medicine

Volume: 23, P: 2225
SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia

E Pasmant
B Gilbert-Dussardier
P Ballerini
Research27 Jan 2014
Oncogene

Volume: 34, P: 631-638

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A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndrome

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Author Correction: Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Correction: Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

A phase III study comparing preservative-free latanoprost eye drop emulsion with preserved latanoprost in open-angle glaucoma or ocular hypertension

2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel–Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study

A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort

ARP-T1-associated Bazex–Dupré–Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

Integrating longitudinal serum IL-17 and IL-23 follow-up, along with autoantibodies variation, contributes to predict bullous pemphigoid outcome

Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Response to Resta et al.

SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia

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