Case Report
Copyright ©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Diabetes. Aug 15, 2025; 16(8): 108946
Published online Aug 15, 2025. doi: 10.4239/wjd.v16.i8.108946
WFS1 gene mutation associated with pediatric diabetes mellitus and congenital deafness: A case report
Ai-Min Gao, Wan-Ling Deng, Xin-Ping Yang, Wan-Yue Wu, Chun-Yuan Ma, Yu Liu
Ai-Min Gao, Wan-Ling Deng, Xin-Ping Yang, Wan-Yue Wu, Chun-Yuan Ma, Yu Liu, Department of Pediatric Endocrinology, Genetics and Metabolism, Guiyang Maternal and Child Health Care Hospital, Guiyang Children's Hospital, Guiyang 550000, Guizhou Province, China
Author contributions: Liu Y and Gao AM the principal investigators, conceived the study and revised the manuscript; Gao AM, Yang XP, Deng WL, Wu WY, and Ma CY collected the data and drew the figures and tables; Gao AM wrote the manuscript; Liu Y revised the manuscript; all authors critically reviewed the article and approved the final manuscript.
Supported by Beijing Holistic Integrative Medicine Association Clinical Research Funding Program, No. ZHKY-2024-2209.
Informed consent statement: Informed consent was obtained from the patient's parents for all procedures, genetic testing, and publication of the case details and images. The study protocol was reviewed and approved by the Institutional Review Board of Guiyang Maternal and Child Health Care Hospital (No. 2025-15), ensuring compliance with the Declaration of Helsinki and ethical standards for research involving human subjects.
Conflict-of-interest statement: The authors declare that they have no conflict of interest to disclose.
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: Yu Liu, Chief Physician, Department of Pediatric Endocrinology, Genetics and Metabolism, Guiyang Maternal and Child Health Care Hospital, Guiyang Children's Hospital, No. 63 Ruijin South Road, Nanming District, Guiyang 550000, Guizhou Province, China. yuliudoctor2@163.com
Received: April 28, 2025
Revised: June 2, 2025
Accepted: July 14, 2025
Published online: August 15, 2025
Processing time: 109 Days and 3.2 Hours
Core Tip

Core Tip: A 2yearold girl with diabetic ketoacidosis and congenital deafness was found to carry a novel heterozygous WFS1 mutation (c.986T>C, p.Phe329Ser). Rapid wholeexome sequencing confirmed Wolfram syndrome, guiding timely metabolic correction, insulin therapy, audiologic support, and genetic counseling. This previously unreported variant expands the WFS1 mutational spectrum and underscores the value of early genetic testing in children whose diabetes presents with atypical features such as sensorineural hearing loss.