Article
A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.
Human molecular genetics - 13 Oct 2021
Fjær Roar, Marciniak Katarzyna, Sundnes Olav, Hjorthaug Hanne, Sheng Ying, Hammarström Clara, Sitek Jan Cezary, Vigeland Magnus Dehli, Backe Paul Hoff, Øye Ane-Marte, Fosse Johanna Hol, Stav-Noraas Tor Espen, Uchiyama Yuri, Matsumoto Naomichi, Comi Anne, Pevsner Jonathan, Haraldsen Guttorm, Selmer Kaja Kristine
Abstract excerpt
Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by vascular malformations affecting skin, eyes and leptomeninges of the brain, which can lead to glaucoma, seizures and intellectual disability. The discovery of a disease-causing somatic missense mutation in the GNAQ gene, encoding an alpha chain of heterotrimeric G-proteins, has initiated efforts to understand how G-proteins contribute to...
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