Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

Hum Mutat. 2000 Nov;16(5):386-94. doi: 10.1002/1098-1004(200011)16:5<386::AID-HUMU2>3.0.CO;2-Y.


The PMM2 gene, which is defective in CDG-Ia, was cloned three years ago [Matthijs et al., 1997b]. Several publications list PMM2 mutations [Matthijs et al., 1997b, 1998; Kjaergaard et al., 1998, 1999; Bjursell et al., 1998, 2000; Imtiaz et al., 2000] and a few mutations have appeared in case reports or abstracts [Crosby et al., 1999; Kondo et al., 1999; Krasnewich et al., 1999; Mizugishi et al., 1999; Vuillaumier-Barrot et al., 1999, 2000b]. However, the number of molecularly characterized cases is steadily increasing and many new mutations may never make it to the literature. Therefore, we decided to collate data from six research and diagnostic laboratories that have committed themselves to a systematic search for PMM2 mutations. In total we list 58 different mutations found in 249 patients from 23 countries. We have also collected demographic data and registered the number of deceased patients. The documentation of the genotype-phenotype correlation is certainly valuable, but is out of the scope of this molecular update. The list of mutations will also be available online (URL: http://www.kuleuven. and investigators are invited to submit new data to this PMM2 mutation database.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence / genetics
  • Child
  • Congenital Disorders of Glycosylation / classification
  • Congenital Disorders of Glycosylation / enzymology
  • Congenital Disorders of Glycosylation / epidemiology
  • Congenital Disorders of Glycosylation / genetics*
  • Exons / genetics
  • Genotype
  • Glycosylation
  • Humans
  • Infant
  • Infant, Newborn
  • Molecular Sequence Data
  • Mutation, Missense*
  • Phenotype
  • Phosphotransferases (Phosphomutases) / genetics*
  • Phosphotransferases (Phosphomutases) / metabolism
  • Polymorphism, Genetic / genetics


  • Phosphotransferases (Phosphomutases)
  • phosphomannomutase