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Article

SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?

Clinical genetics - 1 Dec 2024

Malbos Marlène, Vera Gabriella, Sheth Harsh, Schnur Rhonda E, Juven Aurélien, Brehin Anne-Claire, Sheth Jayesh, Gandhi Ajit, Shapiro Faye L, Bruel Ange-Line, Marguet Florent, Begtrup Amber, Monaghan Kristin G, Safraou Hana, Brasseur-Daudruy Marie, Mau-Them Frédéric Tran, Duffourd Yannis, Faivre Laurence, Thauvin-Robinet Christel, Benke Paul J, Philippe Christophe

Abstract excerpt

SCY1-like protein 2 (SCYL2) is a member of the SCY1-like pseudokinase family which regulates secretory protein trafficking. It plays a crucial role in the nervous system by suppressing excitotoxicity in the developing brain. Scyl2 knockout mice have excess prenatal mortality and survivors show severe neurological dysfunction. Bi-allelic loss-of-function (LOF) variants in SCYL2 were recently associated with...

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Identifiers

PMID: 39169672
DOI: 10.1111/cge.14608

Genes

SCYL2

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