Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
| Title: | Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation. |
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| Authors: | Radenkovic S; Mayo Clinic, Department of Clinical Genomics, Rochester, MN, USA; Metabolomics Expertise Center, CCB, KU Leuven-VIB, Leuven, Belgium; Laboratory of Hepatology, Department of CHROMETA, KU Leuven, Leuven, Belgium. Electronic address: silvia.radenkovic@kuleuven.be.; Fitzpatrick-Schmidt T; Tulane University Medical School, New Orleans, LA, USA.; Byeon SK; Mayo Clinic, Department of Laboratory of Medical Pathology, Rochester, MN, USA.; Madugundu AK; Mayo Clinic, Department of Laboratory of Medical Pathology, Rochester, MN, USA; Institute of Bioinformatics, International Technology Park, Bangalore, Karnataka, India; Manipal Academy of Higher Education, Manipal, Karnataka, India.; Saraswat M; Mayo Clinic, Department of Laboratory of Medical Pathology, Rochester, MN, USA; Institute of Bioinformatics, International Technology Park, Bangalore, Karnataka, India; Manipal Academy of Higher Education, Manipal, Karnataka, India.; Lichty A; Greenwood Genetic Center, Greenwood, SC, USA.; Wong SYW; Tulane University Medical School, New Orleans, LA, USA; Stanford University, CA, USA.; McGee S; Greenwood Genetic Center, Greenwood, SC, USA.; Kubiak K; Greenwood Genetic Center, Greenwood, SC, USA.; Ligezka A; Mayo Clinic, Department of Clinical Genomics, Rochester, MN, USA.; Ranatunga W; Mayo Clinic, Department of Clinical Genomics, Rochester, MN, USA.; Zhang Y; Mayo Clinic, Department of Clinical Genomics, Rochester, MN, USA.; Wood T; Greenwood Genetic Center, Greenwood, SC, USA.; Friez MJ; Greenwood Genetic Center, Greenwood, SC, USA.; Clarkson K; Greenwood Genetic Center, Greenwood, SC, USA.; Pandey A; Mayo Clinic, Department of Laboratory of Medical Pathology, Rochester, MN, USA; Mayo Clinic, Center for Individualized Medicine, Rochester, MN, USA.; Jones JR; Greenwood Genetic Center, Greenwood, SC, USA.; Morava E; Mayo Clinic, Department of Clinical Genomics, Rochester, MN, USA; Mayo Clinic, Department of Laboratory of Medical Pathology, Rochester, MN, USA. |
| Source: | Molecular genetics and metabolism [Mol Genet Metab] 2021 Jan; Vol. 132 (1), pp. 27-37. Date of Electronic Publication: 2020 Oct 17. |
| Publication Type: | Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Language: | English |
| Journal Info: | Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Orlando, FL : Academic Press, c1998- |
| MeSH Terms: | Genetic Predisposition to Disease*; Congenital Disorders of Glycosylation/*genetics ; Intellectual Disability/*genetics ; Mannosyltransferases/*genetics; Congenital Disorders of Glycosylation/diagnosis ; Congenital Disorders of Glycosylation/pathology ; Intellectual Disability/diagnosis ; Intellectual Disability/pathology ; Muscle Weakness/diagnosis ; Muscle Weakness/genetics ; Muscle Weakness/pathology ; Mutation/genetics ; Adult ; Humans ; Male ; Phenotype |
| 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.; (Copyright © 2020 Elsevier Inc. All rights reserved.) |
| Competing Interests: | Declaration of Competing Interest Authors have no conflicts of interest to declare. |
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| Grant Information: | U54 NS115198 United States NS NINDS NIH HHS; United Kingdom WT_ Wellcome Trust |
| Contributed Indexing: | Keywords: CDG; Dolichophosphomannose; Intellectual disability; Lipidomics; Muscle weakness |
| Substance Nomenclature: | EC 2.4.1.- (DPM2 protein, human); EC 2.4.1.- (Mannosyltransferases) |
| Entry Date(s): | Date Created: 20201101 Date Completed: 20210802 Latest Revision: 20220102 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC7855207 |
| DOI: | 10.1016/j.ymgme.2020.10.007 |
| PMID: | 33129689 |
| Database: | MEDLINE |
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't