title: A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.
abstract: 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.
authors.affiliation: Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. alowain@kfshrc.edu.sa
authors.forename: Mohammed
authors.initials: M
authors.lastname: Al-Owain
authors.forename: Sarar
authors.initials: S
authors.lastname: Mohamed
authors.forename: Namik
authors.initials: N
authors.lastname: Kaya
authors.forename: Ahmad
authors.initials: A
authors.lastname: Zagal
authors.forename: Gert
authors.initials: G
authors.lastname: Matthijs
authors.forename: Jaak
authors.initials: J
authors.lastname: Jaeken
mesh_terms: D002311:Cardiomyopathy, Dilated / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics*; D002648:Child; D018981:Congenital Disorders of Glycosylation / Q000235:genetics*; D005964:Glucosyltransferases / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation
chemical_list: D008565:Membrane Proteins; C498467:ALG6 protein, human; D005964:Glucosyltransferases
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