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Article

De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder.

The EMBO journal - 1 Jan 2025

Quinodoz Mathieu, Rutz Sonja, Peter Virginie, Garavelli Livia, Innes A Micheil, Lehmann Elena F, Kellenberger Stephan, Peng Zhong, Barone Angelica, Campos-Xavier Belinda, Unger Sheila, Rivolta Carlo, Dutzler Raimund, Superti-Furga Andrea

Abstract excerpt

Volume-regulated anion channels (VRACs) are multimeric proteins composed of different paralogs of the LRRC8 family. They are activated in response to hypotonic swelling, but little is known about their specific functions. We studied two human individuals with the same congenital syndrome affecting blood vessels, brain, eyes, and bones. The LRRC8C gene harbored de novo variants in both patients, located in a...

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Identifiers

PMID: 39623139
DOI: 10.1038/s44318-024-00322-y
PMCID: PMC11729881

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