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

Silvia Radenkovic, Taylor Fitzpatrick-Schmidt, Seul Kee Byeon, Anil K. Madugundu, Mayank Saraswat, Angie Lichty, Sunnie Y.W. Wong, Stephen McGee, Katharine Kubiak, Anna Ligezka, Wasantha Ranatunga, Yuebo Zhang, Tim Wood, Michael J. Friez, Katie Clarkson, Akhilesh Pandey, Julie R. Jones, Eva Morava

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)27-37
Number of pages11
JournalMolecular genetics and metabolism
Volume132
Issue number1
DOIs
StatePublished - Jan 2021

Keywords

  • CDG
  • Dolichophosphomannose
  • Intellectual disability
  • Lipidomics
  • Muscle weakness

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

Fingerprint Dive into the research topics of 'Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation'. Together they form a unique fingerprint.

Cite this