Article
A founder variant in Tunisian PMM2-CDG patients: An integrated clinical, radiological, biochemical, and genetic study.
Molecular genetics and metabolism - 1 Apr 2026
Kraoua Lilia, Ben Younes Thouraya, El Asmi Monia, Zioudi Abir, Klaa Hedia, Miladi Zouhour, Benrhouma Hanene, Nagi Sonia, Alglave Sylvie, Bruneel Arnaud, Lebredonchel Elodie, Dupré Thierry, Vuillaumier Barrot Sandrine, Kraoua Ichraf
Abstract excerpt
PMM2-CDG is the most common congenital disorder of glycosylation, characterized by a broad phenotypic spectrum involving the nervous system and multiple other organ systems. The disorder is caused by biallelic variants in the PMM2 gene, leading to impaired glycosylation of proteins. Our objective was to provide a detailed clinical characterization and define the mutational spectrum of PMM2-CDG in the Tunisian...
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