Novel PAX4 variant in a child and family with diabetes mellitus – case report and review of the literature
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Yee-Lin Lee
,
Tzer-Hwu Ting
,
Chong-Teik Lim
Abstract
Objectives
PAX4 (Paired box 4), a transcription factor crucial in pancreatic beta cell development and function, is a rare cause of maturity-onset diabetes of the young (MODY). What is new? A novel PAX4 variant is verified by family segregation study to be likely pathogenic. A child below 10 years of age diagnosed to have PAX4-MODY, differing from previously reported paediatric cases diagnosed in adolescence.
Case presentation
A child with diabetes diagnosed at age 8 years, harbored a PAX4 variant, c.890G>A (p.Gly297Asp), initially classified as variant of uncertain significance. Eleven family members (7 adults and 4 children) with and without diabetes across 3 generations were genotyped. The variant co-segregated with diabetes or prediabetes across 3 generations of the family. The variant is reclassified as likely pathogenic according to standard guidelines.
Conclusions
Genetic testing is essential to confirm PAX4-MODY as the presentation is variable even within the same family. PAX4 mutation needs to be considered in MODY genetic testing in Asian patients.
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Ethical approval: The local Institutional Review Board deemed the study exempt from review.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission. KHL,THT conceptualized the study; YLL collected the clinical data; CTL, CAA, TK, KHL performed the genetic analysis; YLL, THT wrote the paper.
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Competing interests: Authors state no conflict of interest.
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Research funding: This work was supported by funding from IBRO Return Home Fellowships 2021 and ISN-CAEN Return Home Grant 2021 awarded to KHL (Vot ID: 6380075).
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Supplementary Material
This article contains supplementary material (https://doi.org/10.1515/jpem-2023-0171).
© 2023 Walter de Gruyter GmbH, Berlin/Boston
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- Frontmatter
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- A pediatric case of autosomal dominant hypocalcemia type 2
- Very severe hypertriglyceridemia complicating pediatric acute lymphoblastic leukemia treatment: a call for management guidelines
- Management of acute metabolic crisis in TANGO2 deficiency: a case report
- Novel PAX4 variant in a child and family with diabetes mellitus – case report and review of the literature
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