Case Report
A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report
- † Equal contributors
1 Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
2 College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
3 Department of Pediatrics, Saad Hospital, Al-Khobar, Saudi Arabia
4 Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
5 Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
6 Center for Metabolic Disease, University Hospital Gasthuisberg, Leuven, Belgium
Orphanet Journal of Rare Diseases 2010, 5:7 doi:10.1186/1750-1172-5-7
Published: 16 April 2010Abstract
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.
