Case Report
Copyright ©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Mar 16, 2024; 12(8): 1454-1460
Published online Mar 16, 2024. doi: 10.12998/wjcc.v12.i8.1454
3M syndrome patient with a novel mutation: A case report
Ming-Ran Luo, Si-Ming Dai, Yin Li, Qian Wang, Hao Liu, Peng Gao, Jia-Yun Liu, Jian Chen, Shu-Jie Zhao, Guo-Yong Yin
Ming-Ran Luo, Si-Ming Dai, Yin Li, Qian Wang, Hao Liu, Peng Gao, Jia-Yun Liu, Jian Chen, Shu-Jie Zhao, Guo-Yong Yin, Department of Orthopedics, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, Jiangsu Province, China
Co-first authors: Ming-Ran Luo and Si-Ming Dai.
Co-corresponding authors: Shu-Jie Zhao and Guo-Yong Yin.
Author contributions: Luo MR and Dai SM contributed equally to this work as joint first authors; Zhao SJ and Yin GY contributed equally to this work as joint corresponding authors; Luo MR and Dai SM were involved in drafting and revision of the manuscript; Zhao SJ and Yin GY were involved in completing the collection and sequencing of clinical samples; Yin GY supervised this study. All authors discussed the results and commented on the manuscript. All authors performed the data analysis, and statistical analysis. The reasons for designating Zhao SJ and Yin GY as joint corresponding authors are threefold. First, Zhao SJ and Yin GY conceived, designed and refined the study protocol. The research was performed as a collaborative effort, and the designation of joint corresponding authorship accurately reflects the distribution of responsibilities and burdens associated with the time and effort required to complete the study and the resultant paper. Second, the overall research team encompassed authors with a variety of expertise and skills from different fields, and the designation of joint corresponding authors best reflects this diversity. This also promotes the most comprehensive and in-depth examination of the research topic, ultimately enriching readers’ understanding by offering various expert perspectives. Third, Zhao SJ and Yin GY contributed efforts of equal substance throughout the research process. The choice of these researchers as joint corresponding authors acknowledges and respects this equal contribution, while recognizing the spirit of teamwork and collaboration of this study. In summary, we believe that designating Zhao SJ and Yin GY as joint corresponding authors of is fitting for our manuscript as it accurately reflects our team’s collaborative spirit, equal contributions, and diversity.
Supported by the National Natural Science Foundation of China, No. 82030069, No. 81520108018, and No. 81772351.
Informed consent statement: The patient provided informed consent. The study protocols were approved by ethics committees at the First Affiliated Hospital of Nanjing Medical University (2022-SR-661). We identify the committee that approved the research, confirm that all research was performed in accordance with relevant guidelines/regulations, confirming that informed consent was obtained from all participants and/or their legal guardians.
Conflict-of-interest statement: All 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: Guo-Yong Yin, PhD, Professor, Department of Orthopaedics, The First Affiliated Hospital of Nanjing Medical University, No. 300 Guangzhou Road, Gulou District, Nanjing 210029, Jiangsu Province, China. guoyong_yin@sina.com
Received: November 13, 2023
Peer-review started: November 13, 2023
First decision: December 26, 2023
Revised: December 29, 2023
Accepted: January 30, 2024
Article in press: January 30, 2024
Published online: March 16, 2024
Processing time: 119 Days and 20.9 Hours
Core Tip

Core Tip: 3M syndrome, a rare autosomal recessive genetic disease that is characterized by severe intrauterine and postnatal growth retardation. Children with 3M syndrome typically exhibit short stature, facial deformities, long tubular bones, and high vertebral bodies, while lacking mental abnormalities or other organ damage. The pathogenic genes associated with 3M syndrome include CUL7, OBSL1 and CCDC8. When encountering patients with short stature and dysmorphic features alongside normal intelligence, it is essential to consider 3M syndrome as a differential diagnosis. Our study has identified a new variant in the OBSL1 gene, contributing to the expanding molecular profile of 3M syndrome.