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

doi:10.1016/j.ymgme.2020.10.007

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 journal › Article › peer-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 language	English (US)
Pages (from-to)	27-37
Number of pages	11
Journal	Molecular genetics and metabolism
Volume	132
Issue number	1
DOIs	https://doi.org/10.1016/j.ymgme.2020.10.007
State	Published - Jan 2021

Keywords

CDG
Dolichophosphomannose
Intellectual disability
Lipidomics
Muscle weakness

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

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10.1016/j.ymgme.2020.10.007

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Radenkovic, S., Fitzpatrick-Schmidt, T., Byeon, S. K., Madugundu, A. K., Saraswat, M., Lichty, A., Wong, S. Y. W., McGee, S., Kubiak, K., Ligezka, A., Ranatunga, W., Zhang, Y., Wood, T., Friez, M. J., Clarkson, K., Pandey, A., Jones, J. R., & Morava, E. (2021). Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation. Molecular genetics and metabolism, 132(1), 27-37. https://doi.org/10.1016/j.ymgme.2020.10.007

Radenkovic, S, Fitzpatrick-Schmidt, T, Byeon, SK, Madugundu, AK, Saraswat, M, Lichty, A, Wong, SYW, McGee, S, Kubiak, K, Ligezka, A, Ranatunga, W, Zhang, Y, Wood, T, Friez, MJ, Clarkson, K, Pandey, A, Jones, JR & Morava, E 2021, 'Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation', Molecular genetics and metabolism, vol. 132, no. 1, pp. 27-37. https://doi.org/10.1016/j.ymgme.2020.10.007

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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",

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doi = "10.1016/j.ymgme.2020.10.007",

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AU - Radenkovic, Silvia

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AU - Byeon, Seul Kee

AU - Madugundu, Anil K.

AU - Saraswat, Mayank

AU - Lichty, Angie

AU - Wong, Sunnie Y.W.

AU - McGee, Stephen

AU - Kubiak, Katharine

AU - Ligezka, Anna

AU - Ranatunga, Wasantha

AU - Zhang, Yuebo

AU - Wood, Tim

AU - Friez, Michael J.

AU - Clarkson, Katie

AU - Pandey, Akhilesh

AU - Jones, Julie R.

AU - Morava, Eva

PY - 2021/1

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N2 - 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.

AB - 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.

KW - CDG

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KW - Lipidomics

KW - Muscle weakness

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

Abstract

Keywords

ASJC Scopus subject areas

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