Article

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

2024-07-24

Abstract excerpt

The genetic bases of mosaic pigmentation disorders have increasingly been identified, but these conditions remain poorly characterised, and their pathophysiology is unclear. Here, we report in four unrelated patients that a recurrent postzygotic mutation in GNA13 is responsible for a recognizable syndrome with hypomelanosis of Ito associated with developmental anomalies. GNA13 encodes Gα 13 , a subunit of αβγ hete...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 7f0bbd03-9b0d-55cf-b6f3-e98c9bc76652
DOI: 10.1101/2024.07.24.24310661

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A postzygotic<i>GNA13</i>variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndromeDOI 10.1101/2024.07.24.24310661Read

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.Semantic proximity Read

Postzygotic inactivating mutation of KIF13A located at chromosome 6p22.3 in a patient with a novel mosaic neuroectodermal syndrome.Semantic proximity Read

The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype.Semantic proximity Read

Molecular basis of congenital hypopigmentary disorders in humans: a review.Semantic proximity Read

GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical DiagnosesSemantic proximity Read

A novel pathogenic RHOA variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings.Semantic proximity Read

A Dominant Mutation in Gαs-Protein Increases Hair Pigmentation.Semantic proximity Read

Griscelli syndrome: a model system to study vesicular trafficking.Semantic proximity Read

Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes.Semantic proximity Read

EDNRB/EDN3 and Hirschsprung disease type II.Semantic proximity Read

Hypomelanosis of Ito: No entity, but a cutaneous sign of mosaicismSemantic proximity Read

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)Semantic proximity Read