Skip to main content
SpringerLink
Log in

Illness stress-induced transient hyperglycemia in a patient with a novel YIPF5 homozygous missense variant: expanding the phenotype

  • Teaching Case Presentations
  • Published:
Hormones Aims and scope Submit manuscript

Abstract

A recently described type of neonatal diabetes mellitus is caused by mutations in the YIPF5 gene and is combined with manifestations from the central nervous system, including developmental delay, epilepsy, and microcephaly. The molecular pathophysiology behind this phenotype involves the breakdown of the endoplasmic reticulum stress response due to the loss of protein folding capacity. This results in overt diabetes present from very early in life. Herein, we describe a patient with a newly reported variant in the YIPF5 gene, who presented with short events of severe hyperglycemia, induced by the stress of common illnesses, which completely resolved after recovery. We discuss the nature of transient hyperglycemia in the context of the YIPF5 gene variant and compare this phenotype with the previously described cases.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

References

  1. Skopkova M, Hennig F, Shin B et al (2017) EIF2S3 mutations Associated with severe X-Linked intellectual disability syndrome MEHMO. Hum Mutat 38:409–425. https://doi.org/10.1002/humu.23170

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Franco ED, Flanagan SE, Houghton JA et al (2015) The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. Lancet 386:957–963. https://doi.org/10.1016/s0140-6736(15)60098-8

    Article  PubMed  PubMed Central  Google Scholar 

  3. Igoillo-Esteve M, Genin A, Lambert N et al (2013) tRNA methyltransferase Homolog Gene TRMT10A mutation in Young Onset Diabetes and primary microcephaly in humans. PLoS Genet 9:e1003888. https://doi.org/10.1371/journal.pgen.1003888

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Cnop M, Toivonen S, Igoillo-Esteve M et al (2017) Endoplasmic reticulum stress and eIF2α phosphorylation: the Achilles heel of pancreatic β cells. Mol Metab 6:1024–1039. https://doi.org/10.1016/j.molmet.2017.06.001

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Nakagawa H, Hazama K, Ishida K et al (2017) Inhibition of PLD1 activity causes ER stress via regulation of COPII vesicle formation. Biochem Biophys Res Commun 490:895–900. https://doi.org/10.1016/j.bbrc.2017.06.137

    Article  CAS  PubMed  Google Scholar 

  6. Preston AM, Gurisik E, Bartley C et al (2009) Reduced endoplasmic reticulum (ER)-to-golgi protein trafficking contributes to ER stress in lipotoxic mouse beta cells by promoting protein overload. Diabetologia 52:2369–2373. https://doi.org/10.1007/s00125-009-1506-5

    Article  CAS  PubMed  Google Scholar 

  7. Franco ED, Caswell R, Johnson MB et al (2020) De Novo mutations in EIF2B1 affecting eIF2 signaling cause Neonatal/Early-Onset diabetes and transient hepatic dysfunction. Diabetes 69:477–483. https://doi.org/10.2337/db19-1029

    Article  CAS  PubMed  Google Scholar 

  8. Yoshida Y, Suzuki K, Yamamoto A et al (2008) YIPF5 and YIF1A recycle between the ER and the golgi apparatus and are involved in the maintenance of the golgi structure. Exp Cell Res 314:3427–3443. https://doi.org/10.1016/j.yexcr.2008.07.023

    Article  CAS  PubMed  Google Scholar 

  9. Franco ED, Lytrivi M, Ibrahim H et al (2020) YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress. J Clin Investig 130:6338–6353. https://doi.org/10.1172/jci141455

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

Conflict of interest

None.

Author information

Authors and Affiliations

  1. Department of Pediatrics, Division of Endocrinology, Medical School, University of Patras, Rion, Patras, 26504, Patra, Greece

    Aristeidis Giannakopoulos & Dionisios Chrysis

Authors
  1. Aristeidis Giannakopoulos
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Dionisios Chrysis
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Aristeidis Giannakopoulos.

Additional information

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary Material 1

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Giannakopoulos, A., Chrysis, D. Illness stress-induced transient hyperglycemia in a patient with a novel YIPF5 homozygous missense variant: expanding the phenotype. Hormones (2024). https://doi.org/10.1007/s42000-024-00552-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1007/s42000-024-00552-z

Keywords

Search

Navigation