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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): A case report
Orphanet Journal of Rare Diseases, Volume 5, No. 1, Article 7, Year 2010
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Description
Congenital disorders of glycosylation (CDG) are an expanding group of inherited metabolic diseases with multisystem involvement. ALG6-CDG (CDGIc) is an endoplasmatic reticulum defect in N-glycan assembly. It is usually milder than PMM2-CDG (CDG-Ia) and so is its natural course. It is characterized by psychomotor retardation, seizures, ataxia, and hypotonia. In contrast to PMM2-CDG (CDGIa), there is no cerebellar hypoplasia. Cardiomyopathy has been reported in a few CDG types and in a number of patients with unexplained CDG. We report an 11 year old Saudi boy with severe psychomotor retardation, seizures, strabismus, inverted nipples, dilated cardiomyopathy, and a type 1 pattern of serum transferrin isoelectrofocusing. Phosphomannomutase and phosphomannose isomerase activities were normal in fibroblasts. Full gene sequencing of the ALG6 gene revealed a novel mutation namely c.482A>G (p.Y161C) and heterozygosity in the parents. This report highlights the importance to consider CDG in the differential diagnosis of unexplained cardiomyopathy. © 2010 Al-Owain et al.
Authors & Co-Authors
Al-Owain, Mohammed Abdulaziz
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
College of Medicine Alfaisal University
Mohamed, Sarar
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Kaya, Namik
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Zagal, Ahmad
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Matthijs, Gert L.
Belgium, Leuven
Ku Leuven– University Hospital Leuven
Jaeken, Jaak C.
Belgium, Leuven
Ku Leuven– University Hospital Leuven
Statistics
Citations: 35
Authors: 6
Affiliations: 3
Identifiers
Doi:
10.1186/1750-1172-5-7
e-ISSN:
17501172
Research Areas
Cancer
Genetics And Genomics
Noncommunicable Diseases
Participants Gender
Male