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CCDC115-CDG: A new rare and misleading inherited cause of liver disease.

Molecular genetics and metabolism - 1 Jul 2018

Girard Muriel, Poujois Aurélia, Fabre Monique, Lacaille Florence, Debray Dominique, Rio Marlène, Fenaille François, Cholet Sophie, Ruel Coralie, Caussé Elizabeth, Selves Janick, Bridoux-Henno Laure, Woimant France, Dupré Thierry, Vuillaumier-Barrot Sandrine, Seta Nathalie, Alric Laurent, de Lonlay Pascale, Bruneel Arnaud

Abstract excerpt

Congenital disorders of glycosylation (CDG) linked to defects in Golgi apparatus homeostasis constitute an increasing part of these rare inherited diseases. Among them, COG-CDG, ATP6V0A2-CDG, TMEM199-CDG and CCDC115-CDG have been shown to disturb Golgi vesicular trafficking and/or lumen pH acidification. Here, we report 3 new unrelated cases of CCDC115-CDG with emphasis on diagnosis difficulties related to strong...

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PMID: 29759592
DOI: 10.1016/j.ymgme.2018.05.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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CCDC115-CDG: A new rare and misleading inherited cause of liver disease.PMID 29759592Read ↗

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