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CCDC115-CDG: A new rare and misleading inherited cause of liver disease
- Source :
- Molecular Genetics and Metabolism, Molecular Genetics and Metabolism, Elsevier, 2018, 124 (3), pp.228-235. ⟨10.1016/j.ymgme.2018.05.002⟩, Molecular Genetics and Metabolism, 2018, 124 (3), pp.228-235. ⟨10.1016/j.ymgme.2018.05.002⟩
- Publication Year :
- 2018
- Publisher :
- HAL CCSD, 2018.
-
Abstract
- International audience; 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 phenotypic similarities with mitochondriopathies, Niemann-Pick disease C and Wilson Disease. Indeed, while two individuals clinically presented with early and severe liver fibrosis and cirrhosis associated with neurological symptoms, the other one "only" showed isolated and late severe liver involvement. Biological results were similar to previously described patients, including hypercholesterolemia, elevated alkaline phosphatases and defects in copper metabolism. CDG screening and glycosylation study finally led to the molecular diagnosis of CCDC115-CDG. Besides pointing to the importance of CDG screening in patients with unexplained and severe liver disease, these reports expand the clinical and molecular phenotypes of CCDC115-CDG. The hepatic involvement is particularly addressed. Furthermore, hypothesis concerning the pathogenesis of the liver disease and of major biological abnormalities are proposed.
- Subjects :
- Adult
Male
0301 basic medicine
congenital, hereditary, and neonatal diseases and abnormalities
Cirrhosis
Glycosylation
Endocrinology, Diabetes and Metabolism
[SDV]Life Sciences [q-bio]
Liver steatosis
Liver fibrosis
Golgi Apparatus
Nerve Tissue Proteins
Disease
Bioinformatics
Biochemistry
Pathogenesis
Young Adult
03 medical and health sciences
symbols.namesake
Liver disease
chemistry.chemical_compound
Congenital Disorders of Glycosylation
Endocrinology
Genetics
medicine
Humans
Molecular Biology
business.industry
Liver Diseases
Infant, Newborn
CCDC115
Golgi apparatus
Prognosis
medicine.disease
Phenotype
3. Good health
030104 developmental biology
chemistry
Mutation
symbols
Female
CDG
business
Homeostasis
Copper
Subjects
Details
- Language :
- English
- ISSN :
- 10967192 and 10967206
- Database :
- OpenAIRE
- Journal :
- Molecular Genetics and Metabolism, Molecular Genetics and Metabolism, Elsevier, 2018, 124 (3), pp.228-235. ⟨10.1016/j.ymgme.2018.05.002⟩, Molecular Genetics and Metabolism, 2018, 124 (3), pp.228-235. ⟨10.1016/j.ymgme.2018.05.002⟩
- Accession number :
- edsair.doi.dedup.....0dc18a329e6e2254ace9e1c40ecf336e