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Article

Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation.

European journal of medical genetics - 1 Mar 2023

Fiumara Agata, Sapuppo Annamaria, Ferri Lorenzo, Arena Alessia, Prato Adriana, Garozzo Domenico, Sturiale Luisa, Morrone Amelia, Barone Rita

Abstract excerpt

Congenital disorders of glycosylation (CDG) are genetic multisystem diseases, characterized by defective glycoconjugate synthesis. A small number of CDG with isolated liver damage have been described, such as TMEM199-CDG, a non-encephalopathic liver disorder with Wilson disease-like phenotype. Only eight patients with TMEM199-CDG have been described including seven Europeans (originating from Greece and Italy)...

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PMID: 36706865
DOI: 10.1016/j.ejmg.2023.104709

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