Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2024;21(1):e290124226471.
doi: 10.2174/0115733998265866231204070606.

What Do We Know about Neonatal Diabetes caused by PDX1 Mutations?

Ritiele Bastos de Souza  1 , Pedro Hernán Cabello  1   2 , Eliane Lopes Rosado  3 , Mário Campos Junior  1 , Gabriella de Medeiros Abreu  1   3
Affiliations
Review

What Do We Know about Neonatal Diabetes caused by PDX1 Mutations?

Ritiele Bastos de Souza et al. Curr Diabetes Rev. 2024.

Abstract

Introduction: Neonatal diabetes mellitus (NDM) is characterized by severe hyperglycemia, usually diagnosed in the first few months of an individual's life. It is a genetic disease and one of the main forms of monogenic diabetes. Changes in different genes have already been associated with NDM, including changes in the gene PDX1.

Methods: In this review, we intend to summarize all neonatal diabetes cases caused by PDX1 mutations reported in the literature. For this purpose, we searched keywords in the literature from PubMed and articles cited by the HGMD database. The search retrieved 84 articles, of which 41 had their full text accessed. After applying the study exclusion criteria, nine articles were included.

Results: Of those articles, we detected thirteen cases of NDM associated with changes in PDX1; the majority in homozygous or compound heterozygous patients. Until now, variants in the PDX1 gene have been a rare cause of NDM; however, few studies have included the screening of this gene in the investigation of neonatal diabetes.

Conclusion: In this review, we reinforce the importance of the PDX1 gene inclusion in genetic NGS panels for molecular diagnosis of NDM, and systematic morphological and functional exams of the pancreas when NDM is present.

Keywords: IPF1 gene; MODY4.; Neonatal diabetes; PDX1 gene; PDX1-MODY; mutation.

PubMed Disclaimer

References

    1. Care D.; Suppl S.S.; 2. Classification and diagnosis of diabetes: Standards of medical care in diabetes-2021. Diabetes Care 2021,44(Suppl. 1),S15-S33 - DOI - PubMed
    1. De Franco E.; Flanagan S.E.; Houghton J.A.L.; The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: An international cohort study. Lancet 2015,386(9997),957-963 - DOI - PubMed
    1. Greeley S.A.W.; Tucker S.E.; Naylor R.N.; Bell G.I.; Philipson L.H.; Neonatal diabetes mellitus: A model for personalized medicine. Trends Endocrinol Metab 2010,21(8),464-472 - DOI - PubMed
    1. Yang Y.; Chan L.; Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes. Endocr Rev 2016,37(3),190-222 - DOI - PubMed
    1. Hattersley A.T.; Greeley S.A.W.; Polak M.; ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes 2018,19(Suppl. 27),47-63 - DOI - PubMed

Substances

LinkOut - more resources