title: PMM2-CDG: phenotype and genotype in four affected family members.
abstract: Congenital disorders of glycosylation (CDG) are genetic defects in protein and lipid glycosylation. PMM2-CDG is the most prevalent protein N-glycosylation disorder with more than 700 reported patients. Here we report on a large Italian family with four affected members and three mutations. Two young sisters are compound heterozygous for mutations p.Leu32Arg and p.Arg141His, while two paternal great-aunts are compound heterozygosity for p.Leu32Arg and p.Thr237Met. The latter association has not been reported before. The most severely affected member had in addition an ALG6 mutation known to exacerbate the phenotype of patients with PMM2-CDG.
authors.affiliation: Institute for Maternal and Child Health, IRCCS Burlo Garofolo, via dell'Istria 65/1, 34137 Trieste, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Bortot
authors.forename: Dora
authors.initials: D
authors.lastname: Cosentini
authors.forename: Flavio
authors.initials: F
authors.lastname: Faletra
authors.forename: Stefania
authors.initials: S
authors.lastname: Biffi
authors.forename: Eleonora
authors.initials: E
authors.lastname: De Martino
authors.forename: Marco
authors.initials: M
authors.lastname: Carrozzi
authors.forename: Giovanni Maria
authors.initials: GM
authors.lastname: Severini
mesh_terms: D000368:Aged; D002648:Child; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017875:Phosphotransferases (Phosphomutases) / Q000235:genetics*
chemical_list: D017875:Phosphotransferases (Phosphomutases); C519582:phosphomannomutase 2, human
keywords: ALG6; CDG; CDT; Congenital disorders of glycosylation; Mutation; N-glycosylation; PMM2; PMM2-CDG; Phenotype-genotype correlation; alpha-1,3-glucosyltransferase; carbohydrate-deficient transferrin; phosphomannomutase 2