title: Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families.
abstract: The gene for carbohydrate-deficient glycoprotein syndrome type I (CDG1) has previously been localised by us close to marker D16S406 in chromosome region 16p13.2-3. We also presented data indicating a strong founder mutation associated with a specific haplotype in CDG I patients from western Scandinavia. The phosphomannomutase 2 (PMM2) gene was recently put forward as a likely CDG1 candidate gene. We have now shown that the specific haplotype is associated with the PMM2 mutation 357C > A. Using data from radiation hybrid panel we have refined the position of the PMM2 gene to very close to marker D16S3020 in the interval between D16S406 and AFM282ze1 on the distal side and D16S3087 on the proximal side. Due to the severity of the disease many families request prenatal diagnostic services for CDG I. In the meantime, until the mutation spectrum is fully examined, we propose the combined use of mutation analysis and linkage analysis with polymorphic markers as diagnostic tools for Scandinavian CDG I families requesting prenatal diagnosis. Using this strategy we have to date successfully performed 15 prenatal diagnoses for CDG I.
authors.affiliation: Department of Clinical Genetics, University Hospital/East, Gothenburg, Sweden.
authors.forename: C
authors.initials: C
authors.lastname: Bjursell
authors.forename: J
authors.initials: J
authors.lastname: Wahlström
authors.forename: K
authors.initials: K
authors.lastname: Berg
authors.forename: H
authors.initials: H
authors.lastname: Stibler
authors.forename: B
authors.initials: B
authors.lastname: Kristiansson
authors.forename: G
authors.initials: G
authors.lastname: Matthijs
authors.forename: T
authors.initials: T
authors.lastname: Martinsson
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D018981:Congenital Disorders of Glycosylation / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D004247:DNA; D005260:Female; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D006822:Hybrid Cells; D008297:Male; D009154:Mutation; D010375:Pedigree; D017875:Phosphotransferases (Phosphomutases) / Q000235:genetics*; D011296:Prenatal Diagnosis; D011995:Recombination, Genetic; D012537:Scandinavian and Nordic Countries / Q000208:ethnology
chemical_list: D005819:Genetic Markers; D004247:DNA; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase