Li WX, Xu LL, Liu CF, Dong BZ, Wang YY. Analysis of an adult diabetes mellitus caused by a rare mutation of the gene: A case report. World J Clin Cases 2024; 12(19): 3942-3949 [PMID: 38994305 DOI: 10.12998/wjcc.v12.i19.3942]
Corresponding Author of This Article
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
Research Domain of This Article
Endocrinology & Metabolism
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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: http://creativecommons.org/licenses/by-nc/4.0/
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
Core Tip
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.
