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A case of monogenic diabetes mellitus caused by a novel heterozygous RFX6 nonsense mutation in a 14-year-old girl

  • Goo Lyeon Kim ORCID logo , Soo Heon Kwak and Jeesuk Yu EMAIL logo
Published/Copyright: August 20, 2021
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 34 Issue 12

Abstract

Objectives

Monogenic diabetes mellitus (DM) is a single gene disorder, primarily characterized by impairment in the development or function of pancreatic beta cells.

Case presentation

A 14-year-old girl was initially diagnosed with type 2 DM. The patient did not have any anti-islet autoantibody and showed acanthosis nigricans. She was managed with long-acting insulin and oral hypoglycemic agent, but HbA1c was still 9.3% after 1 year of management. Her mother already had type 2 DM at 46-year-old and was on medication. Under the possibility of familial monogenic DM, targeted exome sequencing was performed which included 29 genes associated with monogenic DM. Nonsense mutation of the gene RFX6 (c.2661T>A, p.Tyr887∗) was found. After adding Glucagon-like peptide-1 (GLP-1) receptor agonist, HbA1c improved from 8.8 to 6.8% and body mass index (BMI) also improved from 31.0 to 29.2 kg/m2.

Conclusions

It may be worth investigating genetic etiology in early-onset autoantibody-negative DM for specific genetic diagnosis and better management.

Keywords: GLP-1 receptor agonist; monogenic diabetes mellitus; RFX6
Corresponding author: Jeesuk Yu, MD, PhD, Department of Pediatrics, Dankook University College of Medicine, 119 Dandae-ro, Dongnam-gu, Cheonan-si, Chungnam 31116, Korea, E-mail:

Funding source: Korea Health Industry Development Institute

Award Identifier / Grant number: HI15C3131

Acknowledgements

We gratefully thank our patient and her parents for their participation of the genetic study.

  1. Research funding: This research was supported by a grant from the Korea Health Technology R&D Project through the Korea Health Industry Development Institute, funded by the Ministry of Health & Welfare, Republic of Korea (grant number: HI15C3131).

  2. Author contributions: Dr. Yu conceptualized and designed the study. Dr. Kim drafted. Drs. Yu, Kwak, and Kim reviewed and revised the manuscript. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

  3. Competing interests: The authors have no financial relationships or conflict of interest relevant to this article to disclose.

  4. Informed consent: Informed consent for genetic study was obtained from all individuals included in the study.

  5. Ethical approval: This study was approved by the Institutional Review Board of the Dankook University Hospital (DKUH 2018-06-007).

References

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Supplementary Material

The online version of this article offers supplementary material (https://doi.org/10.1515/jpem-2021-0275).

Received: 2021-04-24
Accepted: 2021-07-26
Published Online: 2021-08-20
Published in Print: 2021-12-20

© 2021 Walter de Gruyter GmbH, Berlin/Boston

Articles in the same Issue

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  2. Review Article
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  4. Original Articles
  5. Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review
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  7. Growth hormone replacement therapy: is it safe to use in children with asymptomatic pituitary lesions?
  8. Comparing adolescent self staging of pubertal development with hormone biomarkers
  9. Reverse circadian glucocorticoid treatment in prepubertal children with congenital adrenal hyperplasia
  10. The concordance between ultrasonographic stage of breast and Tanner stage of breast for overweight and obese girls: a school population-based study
  11. Cross-sectional analysis: clinical presentation of children with persistently low ALP levels
  12. The utility of continuous glucose monitoring systems in the management of children with persistent hypoglycaemia
  13. Long-term effect of conventional phosphate and calcitriol treatment on metabolic recovery and catch-up growth in children with PHEX mutation
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  15. Investigation of quality of life in obese adolescents: the effect of psychiatric symptoms of obese adolescent and/or mother on quality of life
  16. Predictive value of WHO vs. IAP BMI charts for identification of metabolic risk in Indian children and adolescents
  17. Case Reports
  18. COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1
  19. Aromatase deficiency in an Ontario Old Order Mennonite family
  20. A case of monogenic diabetes mellitus caused by a novel heterozygous RFX6 nonsense mutation in a 14-year-old girl
https://doi.org/10.1515/jpem-2021-0275
Keywords for this article
GLP-1 receptor agonist; monogenic diabetes mellitus; RFX6

Articles in the same Issue

  1. Frontmatter
  2. Review Article
  3. Calcitonin and complementary biomarkers in the diagnosis of hereditary medullary thyroid carcinoma in children and adolescents
  4. Original Articles
  5. Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review
  6. Questioning the adequacy of standardized vitamin D supplementation protocol in very low birth weight infants: a prospective cohort study
  7. Growth hormone replacement therapy: is it safe to use in children with asymptomatic pituitary lesions?
  8. Comparing adolescent self staging of pubertal development with hormone biomarkers
  9. Reverse circadian glucocorticoid treatment in prepubertal children with congenital adrenal hyperplasia
  10. The concordance between ultrasonographic stage of breast and Tanner stage of breast for overweight and obese girls: a school population-based study
  11. Cross-sectional analysis: clinical presentation of children with persistently low ALP levels
  12. The utility of continuous glucose monitoring systems in the management of children with persistent hypoglycaemia
  13. Long-term effect of conventional phosphate and calcitriol treatment on metabolic recovery and catch-up growth in children with PHEX mutation
  14. Role of magnetic resonance diffusion weighted imaging in diagnosis of diabetic nephropathy in children living with type 1 diabetes mellitus
  15. Investigation of quality of life in obese adolescents: the effect of psychiatric symptoms of obese adolescent and/or mother on quality of life
  16. Predictive value of WHO vs. IAP BMI charts for identification of metabolic risk in Indian children and adolescents
  17. Case Reports
  18. COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1
  19. Aromatase deficiency in an Ontario Old Order Mennonite family
  20. A case of monogenic diabetes mellitus caused by a novel heterozygous RFX6 nonsense mutation in a 14-year-old girl
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