Case Report
Copyright ©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jul 6, 2024; 12(19): 3942-3949
Published online Jul 6, 2024. doi: 10.12998/wjcc.v12.i19.3942
Analysis of an adult diabetes mellitus caused by a rare mutation of the gene: A case report
Wen-Xuan Li, Li-Li Xu, Chuan-Feng Liu, Bing-Zi Dong, Yun-Yang Wang
Wen-Xuan Li, Li-Li Xu, Chuan-Feng Liu, Bing-Zi Dong, Yun-Yang Wang, Department of Endocrine and Metabolic Diseases, The Affiliated Hospital of Qingdao University, Qingdao 266003, Shandong Province, China
Author contributions: Li WX performed the statistical analyses and wrote the first draft of the manuscript; Dong BZ and Wang YY contributed to the discussion and data collection; Xu LL and Liu CF revised the manuscript; all authors contributed to the manuscript and approved the submitted version.
Informed consent statement: All study participants, and their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare that they have no competing interests.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Li-Li Xu, PhD, Doctor, Department of Endocrine and Metabolic Diseases, The Affiliated Hospital of Qingdao University, No. 16 Jiangsu Road, Shinan District, Qingdao 266003, Shandong Province, China. qdfyxll@qdu.edu.cn
Received: February 22, 2024
Revised: April 24, 2024
Accepted: May 11, 2024
Published online: July 6, 2024
Processing time: 128 Days and 3.9 Hours
Abstract
BACKGROUND

This study presents the clinical and genetic mutation characteristics of an unusual case of adult-onset diabetes mellitus occurring in adolescence, featuring a unique mutation in the peroxisome proliferator-activated receptor gamma (PPARG) gene. Data Access Statement: Research data supporting this publication are available from the NN repository at www.NNN.org/download/.

CASE SUMMARY

The methodology employed entailed meticulous collection of comprehensive clinical data from the probands and their respective family members. Additionally, high-throughput sequencing was conducted to analyze the PPARG genes of the patient, her siblings, and their offspring. The results of this investigation revealed that the patient initially exhibited elevated blood glucose levels during pregnancy, accompanied by insulin resistance and hypertriglyceridemia. Furthermore, these strains displayed increased susceptibility to diabetic kidney disease without any discernible aggregation patterns. The results from the gene detection process demonstrated a heterozygous mutation of guanine (G) at position 284 in the coding region of exon 2 of PPARG, which replaced the base adenine (A) (exon2c.284A>Gp.Tyr95Cys). This missense mutation resulted in the substitution of tyrosine with cysteine at the 95th position of the translated protein. Notably, both of her siblings harbored a nucleotide heterozygous variation at the same site, and both were diagnosed with diabetes.

CONCLUSION

The PPARG gene mutation, particularly the p.Tyr95Cys mutation, may represent a newly identified subtype of maturity-onset diabetes of the young. This subtype is characterized by insulin resistance and lipid metabolism disorders.

Keywords: Diabetes, Gene mutation, Maturity-onset diabetes of the young, Peroxisome proliferator-activated receptor gamma, Lipid metabolism

Core Tip: The results from the gene detection process demonstrated a heterozygous mutation of guanine (G) at position 284 in the coding region of exon 2 of peroxisome proliferator-activated receptor gamma (PPARG), which replaced the base adenine (A) (exon2c.284A>Gp.Tyr95Cys). This missense mutation resulted in the substitution of tyrosine with cysteine at the 95th position of the translated protein. Notably, both of the patient’s siblings harbored a nucleotide heterozygous variation at the same site, and both were diagnosed with diabetes, suggesting that the PPARG gene mutation, particularly the p.Tyr95Cys mutation, may represent a newly identified subtype of maturity-onset diabetes of the young. This subtype is characterized by insulin resistance and lipid metabolism disorders.