A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.

doi:10.1016/j.gim.2024.101119

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Article

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2024

Lecoquierre François, Punt A Mattijs, Ebstein Frédéric, Wallaard Ilse, Verhagen Rob, Studencka-Turski Maja, Duffourd Yannis, Moutton Sébastien, Tran Mau-Them Frédédic, Philippe Christophe, Dean John, Tennant Stephen, Brooks Alice S, van Slegtenhorst Marjon A, Jurgens Julie A, Barry Brenda J, Chan Wai-Man, England Eleina M, Martinez Ojeda Mayra, Engle Elizabeth C, Robson Caroline D, Morrow Michelle, Innes A Micheil, Lamont Ryan, Sanderson Matthea, Krüger Elke, Thauvin Christel, Distel Ben, Faivre Laurence, Elgersma Ype, Vitobello Antonio

Abstract excerpt

PURPOSE: Fem1 homolog B (FEM1B) acts as a substrate recognition subunit for ubiquitin ligase complexes belonging to the CULLIN 2-based E3 family. Several biological functions have been proposed for FEM1B, including a structurally resolved function as a sensor for redox cell status by controlling mitochondrial activity, but its implication in human disease remains elusive. METHODS: To understand the involvement of...

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PMID: 38465576
DOI: 10.1016/j.gim.2024.101119
PMCID: PMC11257750

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