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

• Tác giả: Sébastien Barbarot, Franck Boralevi, Jérôme Delon, Yannis Duffourd, Rana El Masri, Laurence Faivre, Alberto Iannuzzo, Paul Kuentz, Juliette Mazereeuw-Hautier, Fanny Morice-Picard, Naia Oillarburu, Arthur Sorlin, Rachida Tacine, Pierre Vabres, Marie Vincent
• Ngôn ngữ: eng
• Thông tin xuất bản: England : Nature communications , 2025
• Bộ sưu tập: NCBI
• ID: 203696

Tóm tắt

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