Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation

Mol Genet Metab. 2021 Jan;132(1):27-37. doi: 10.1016/j.ymgme.2020.10.007. Epub 2020 Oct 17.


Pathogenic alterations in the DPM2 gene have been previously described in patients with hypotonia, progressive muscle weakness, absent psychomotor development, intractable seizures, and early death. We identified biallelic DPM2 variants in a 23-year-old male with truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting. His clinical presentation was much less severe than that of the three previously described patients. This is the second report on this ultra-rare disorder. Here we review the characteristics of previously reported individuals with a defect in the DPM complex while expanding the clinical phenotype of DPM2-Congenital Disorders of Glycosylation. In addition, we offer further insights into the pathomechanism of DPM2-CDG disorder by introducing glycomics and lipidomics analysis.

Keywords: CDG; Dolichophosphomannose; Intellectual disability; Lipidomics; Muscle weakness.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Congenital Disorders of Glycosylation / diagnosis
  • Congenital Disorders of Glycosylation / genetics*
  • Congenital Disorders of Glycosylation / pathology
  • Genetic Predisposition to Disease*
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Male
  • Mannosyltransferases / genetics*
  • Muscle Weakness / diagnosis
  • Muscle Weakness / genetics
  • Muscle Weakness / pathology
  • Mutation / genetics
  • Phenotype


  • DPM2 protein, human
  • Mannosyltransferases