MAN1B1-CDG: novel patients and novel variant

doi:10.1515/jpem-2021-0038

Case Reports

. 2021 Jun 24;34(9):1207-1209.

doi: 10.1515/jpem-2021-0038. Print 2021 Sep 27.

MAN1B1-CDG: novel patients and novel variant

Cigdem Seher Kasapkara¹, Asburce Olgac², Mustafa Kilic², Liesbeth Keldermans³, Gert Matthijs³, Jaak Jaeken⁴

Affiliations

¹ Division of Pediatric Metabolism, Ankara City Hospital, Yıldırım Beyazıt University, Ankara, Turkey.
² Division of Pediatric Metabolism, Dr. Sami Ulus Maternity and Child Health Training and Research Hospital, University of Health Sciences, Ankara, Turkey.
³ Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, Leuven, Belgium.
⁴ Department of Pediatrics, Center for Metabolic Diseases, KU Leuven, Leuven, Belgium.

PMID: 34162022
DOI: 10.1515/jpem-2021-0038

Case Reports

MAN1B1-CDG: novel patients and novel variant

Cigdem Seher Kasapkara et al. J Pediatr Endocrinol Metab. 2021.

. 2021 Jun 24;34(9):1207-1209.

doi: 10.1515/jpem-2021-0038. Print 2021 Sep 27.

Authors

Cigdem Seher Kasapkara¹, Asburce Olgac², Mustafa Kilic², Liesbeth Keldermans³, Gert Matthijs³, Jaak Jaeken⁴

Affiliations

¹ Division of Pediatric Metabolism, Ankara City Hospital, Yıldırım Beyazıt University, Ankara, Turkey.
² Division of Pediatric Metabolism, Dr. Sami Ulus Maternity and Child Health Training and Research Hospital, University of Health Sciences, Ankara, Turkey.
³ Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, Leuven, Belgium.
⁴ Department of Pediatrics, Center for Metabolic Diseases, KU Leuven, Leuven, Belgium.

PMID: 34162022
DOI: 10.1515/jpem-2021-0038

Abstract

Objectives: Congenital disorders of glycosylation (CDGs) are a group of genetic disorders due to hypoglycosylation of proteins and lipids. A type I pattern is associated with defects in glycan assembly and transfer (CDG-I; cytosol; and endoplasmic reticulum defects), a type II pattern is seen in processing defects of the Golgi apparatus. MAN1B1-CDG is an autosomal recessive CDG-II due to mutations in the α 1,2-mannosidase gene (MAN1B1), mainly characterized by psychomotor disability, facial dysmorphism, truncal obesity, and hypotonia.

Case presentation: Three patients (two males and one female), with MAN1B1-CDG who had elevated transaminase levels are presented. All patients had presented due to dysmorphic and neurological findings and hypertransaminasemia was remarkable. A type 2 pattern was found on serum transferrin isoelectrofocusing analysis of the presented cases. MAN1B1-CDG was confirmed by genetic analysis.

Conclusions: Although the cause of the increased serum transaminase levels in the present patients is not clear, no evidence for an infection or underlying liver pathology could be identified. In order to know if this is a consistent feature, we suggest measuring serum transaminase levels regularly in MAN1B1-CDG patients.

Keywords: MAN1B1-CDG; congenital disorders of glycosylation; transferring isoelectrofocusing.

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References

1. Chang, IJ, He, M, Lam, CT. Congenital disorders of glycosylation. Ann Transl Med 2018;6:477. https://doi.org/10.21037/atm.2018.10.45.
1. Balasubramanian, M, Johnson, DS, DDD Study. MAN1B1-CDG: novel variants with a distinct phenotype and review of literature. Eur J Med Genet 2019;62:109–14. https://doi.org/10.1016/j.ejmg.2018.06.011.
1. Jaeken, J, Lefeber, DJ, Matthijs, G. Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation. Eur J Hum Genet 2016;24. https://doi.org/10.1038/ejhg.2015.248.
1. Rafiq, MA, Kuss, AW, Puettmann, L, Noor, A, Ramiah, A, Ali, G, et al.. Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet 2011;89:176–82. https://doi.org/10.1016/j.ajhg.2011.06.006.
1. Gupta, S, Fahiminiya, S, Wang, T, Nunez, LD, Rosenblatt, DS, Gibson, WT, et al.. Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A. Cold Spring Harb Mol Case Stud 2016;2:a000737. https://doi.org/10.1101/mcs.a000737.

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[1] Chang, IJ, He, M, Lam, CT. Congenital disorders of glycosylation. Ann Transl Med 2018;6:477. https://doi.org/10.21037/atm.2018.10.45.

[2] Chang, IJ, He, M, Lam, CT. Congenital disorders of glycosylation. Ann Transl Med 2018;6:477. https://doi.org/10.21037/atm.2018.10.45.

[3] Balasubramanian, M, Johnson, DS, DDD Study. MAN1B1-CDG: novel variants with a distinct phenotype and review of literature. Eur J Med Genet 2019;62:109–14. https://doi.org/10.1016/j.ejmg.2018.06.011.

[4] Balasubramanian, M, Johnson, DS, DDD Study. MAN1B1-CDG: novel variants with a distinct phenotype and review of literature. Eur J Med Genet 2019;62:109–14. https://doi.org/10.1016/j.ejmg.2018.06.011.

[5] Jaeken, J, Lefeber, DJ, Matthijs, G. Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation. Eur J Hum Genet 2016;24. https://doi.org/10.1038/ejhg.2015.248.

[6] Jaeken, J, Lefeber, DJ, Matthijs, G. Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation. Eur J Hum Genet 2016;24. https://doi.org/10.1038/ejhg.2015.248.

[7] Rafiq, MA, Kuss, AW, Puettmann, L, Noor, A, Ramiah, A, Ali, G, et al.. Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet 2011;89:176–82. https://doi.org/10.1016/j.ajhg.2011.06.006.

[8] Rafiq, MA, Kuss, AW, Puettmann, L, Noor, A, Ramiah, A, Ali, G, et al.. Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet 2011;89:176–82. https://doi.org/10.1016/j.ajhg.2011.06.006.

[9] Gupta, S, Fahiminiya, S, Wang, T, Nunez, LD, Rosenblatt, DS, Gibson, WT, et al.. Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A. Cold Spring Harb Mol Case Stud 2016;2:a000737. https://doi.org/10.1101/mcs.a000737.

[10] Gupta, S, Fahiminiya, S, Wang, T, Nunez, LD, Rosenblatt, DS, Gibson, WT, et al.. Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A. Cold Spring Harb Mol Case Stud 2016;2:a000737. https://doi.org/10.1101/mcs.a000737.

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MAN1B1-CDG: novel patients and novel variant

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MAN1B1-CDG: novel patients and novel variant

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