MAN1B1-CDG: novel patients and novel variant
-
Cigdem Seher Kasapkara
,
Mustafa Kilic
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.
-
Research funding: None declared.
-
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
-
Competing interests: Authors state no conflict of interest.
-
Informed consent: Informed consent was obtained from all individuals included in this study.
-
Ethical approval: The local Institutional Review Board deemed the study exempt from review.
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.Search in Google Scholar PubMed PubMed Central
2. 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.Search in Google Scholar PubMed
3. 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.Search in Google Scholar PubMed PubMed Central
4. 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.Search in Google Scholar PubMed PubMed Central
5. 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.Search in Google Scholar PubMed PubMed Central
6. Hoffjan, S, Epplen, JT, Reis, A, Jamra, RA. MAN1B1 mutation leads to a recognizable phenotype: a case report and future prospects. Mol Syndromol 2015;6:58–62. https://doi.org/10.1159/000371399.Search in Google Scholar PubMed PubMed Central
7. Rymen, D, Peanne, R, Millón, MB, Race, V, Sturiale, L, Garozzo, D, et al.. MAN1B1 deficiency: an unexpected CDG-II. PLoS Genet 2013;9:e1003989. https://doi.org/10.1371/journal.pgen.1003989.Search in Google Scholar PubMed PubMed Central
8. Van Scherpenzeel, M, Timal, S, Rymen, D, Hoischen, A, Wuhrer, M, Hipgrave-Ederveen, A, et al.. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. Brain 2014;137:1030–8. https://doi.org/10.1093/brain/awu019.Search in Google Scholar PubMed
© 2021 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Review Article
- Effects of aerobic exercise on obese children with metabolic syndrome: a systematic review and meta-analysis
- Original Articles
- Evaluation of clinical, endocrine and metabolic findings in obese children with and without hepatosteatosis
- Anxiety, depression, and glycemic control during Covid-19 pandemic in youths with type 1 diabetes
- Monogenic diabetes in Pakistani infants and children: challenges in a resource poor country
- Hereditary hypophosphatemic rickets and craniosynostosis
- Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants
- The presentation of congenital adrenal hyperplasia in an unscreened population
- Presenting status of children with classical congenital adrenal hyperplasia over two decades (1999–2018) in the absence of newborn screening in Sri Lanka
- Diagnostic re-evaluation and predictors of congenital hypothyroidism with eutopic thyroid gland in Jiangxi, China
- Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review
- The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency
- Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: a single center experience
- Short Communication
- Growth hormone treatment and bone mineral density in pediatric patients with Prader–Willi syndrome
- Case Reports
- SLC35A2-CDG: novel variants with two ends of the spectrum
- Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency
- Neurological and gastrointestinal symptoms as an initial presentation of pediatric thyroid storm: report of three cases
- Rapid molecular diagnosis of ALB gene variants prevents unnecessary interventions in familial dysalbuminemic hyperthyroxinemia
- MAN1B1-CDG: novel patients and novel variant
Articles in the same Issue
- Frontmatter
- Review Article
- Effects of aerobic exercise on obese children with metabolic syndrome: a systematic review and meta-analysis
- Original Articles
- Evaluation of clinical, endocrine and metabolic findings in obese children with and without hepatosteatosis
- Anxiety, depression, and glycemic control during Covid-19 pandemic in youths with type 1 diabetes
- Monogenic diabetes in Pakistani infants and children: challenges in a resource poor country
- Hereditary hypophosphatemic rickets and craniosynostosis
- Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants
- The presentation of congenital adrenal hyperplasia in an unscreened population
- Presenting status of children with classical congenital adrenal hyperplasia over two decades (1999–2018) in the absence of newborn screening in Sri Lanka
- Diagnostic re-evaluation and predictors of congenital hypothyroidism with eutopic thyroid gland in Jiangxi, China
- Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review
- The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency
- Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: a single center experience
- Short Communication
- Growth hormone treatment and bone mineral density in pediatric patients with Prader–Willi syndrome
- Case Reports
- SLC35A2-CDG: novel variants with two ends of the spectrum
- Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency
- Neurological and gastrointestinal symptoms as an initial presentation of pediatric thyroid storm: report of three cases
- Rapid molecular diagnosis of ALB gene variants prevents unnecessary interventions in familial dysalbuminemic hyperthyroxinemia
- MAN1B1-CDG: novel patients and novel variant
