@article{4def2ec3fe254f8894dc7a1532b831f5,
title = "Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation",
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.",
keywords = "CDG, Dolichophosphomannose, Intellectual disability, Lipidomics, Muscle weakness",
author = "Silvia Radenkovic and Taylor Fitzpatrick-Schmidt and Byeon, {Seul Kee} and Madugundu, {Anil K.} and Mayank Saraswat and Angie Lichty and Wong, {Sunnie Y.W.} and Stephen McGee and Katharine Kubiak and Anna Ligezka and Wasantha Ranatunga and Yuebo Zhang and Tim Wood and Friez, {Michael J.} and Katie Clarkson and Akhilesh Pandey and Jones, {Julie R.} and Eva Morava",
note = "Funding Information: This work was funded by the grant titled Frontiers in Congenital Disorders of Glycosylation ( 1U54NS115198-01 ) from the National Institute of Neurological Diseases and Stroke (NINDS) and the National Center for Advancing Translational Sciences (NCATS), and the Rare Disorders Clinical Research Network (RDCRN), at the National Institute of Health . In addition, this work was supported by the Wellcome Trust/DBT India Alliance Margdarshi Fellowship (Grant number IA/M/15/1/502023 ) awarded to Akhilesh Pandey. Funding Information: We sincerely thank the patient and his family. This work was funded by the grant titled Frontiers in Congenital Disorders of Glycosylation (1U54NS115198-01) from the National Institute of Neurological Diseases and Stroke (NINDS) and the National Center for Advancing Translational Sciences (NCATS), and the Rare Disorders Clinical Research Network (RDCRN), at the National Institute of Health. In addition, this work was supported by the Wellcome Trust/DBT India Alliance Margdarshi Fellowship (Grant number IA/M/15/1/502023) awarded to Akhilesh Pandey. Publisher Copyright: {\textcopyright} 2020 Elsevier Inc.",
year = "2021",
month = jan,
doi = "10.1016/j.ymgme.2020.10.007",
language = "English (US)",
volume = "132",
pages = "27--37",
journal = "Molecular genetics and metabolism",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "1",
}