title: Congenital disorder of glycosylation type Ia: benign clinical course in a new genetic variant.
abstract: The congenital disorders of glycosylation (CDG) are autosomal recessive disorders of N-glycans processing. Several different subtypes have been identified in recent years. Cerebellar atrophy is a characteristic finding in subtype Ia. We report clinical, imaging and genetic findings in a patient with a particularly benign clinical course, who had a normal CT at the age of 9 months and a new, previously undescribed, combination of mutations of the PMM gene locus on chromosome 16p13 (647,691). The 691 mutation has been described only in severe cases so far. This could indicate that genotype-phenotype correlation is lower than expected.
authors.affiliation: Department of Neuroradiology, University of Tübingen Medical School, Hoppe-Seyler-Strasse 3, 72076 Tübingen, Germany.
authors.forename: Irina
authors.initials: I
authors.lastname: Mader
authors.forename: Marion
authors.initials: M
authors.lastname: Döbler-Neumann
authors.forename: Wilhelm
authors.initials: W
authors.lastname: Küker
authors.forename: Helena
authors.initials: H
authors.lastname: Stibler
authors.forename: Ingeborg
authors.initials: I
authors.lastname: Krägeloh-Mann
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D006031:Glycosylation; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D014057:Tomography, X-Ray Computed