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©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jul 16, 2022; 10(20): 7068-7075
Published online Jul 16, 2022. doi: 10.12998/wjcc.v10.i20.7068
Published online Jul 16, 2022. doi: 10.12998/wjcc.v10.i20.7068
Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case report
Jia-Xi Fang, Jin-Shi Zhang, Min-Min Wang, Lin Liu, Department of Nephrology, Zhejiang Provincial People’s Hospital, Affiliated People’s Hospital, Hangzhou Medical College, Hangzhou 310014, Zhejiang Province, China
Jia-Xi Fang, Jin-Shi Zhang, Min-Min Wang, Lin Liu, Department of Nephrology, Chinese Medical Nephrology Key Laboratory of Zhejiang Province, Hangzhou 310014, Zhejiang Province, China
Jia-Xi Fang, Min-Min Wang, Lin Liu, Department of Nephrology, Zhejiang Provincial People’s Hospital, Qingdao University, Hangzhou 310014, Zhejiang Province, China
Jin-Shi Zhang, School of Medicine, Hangzhou Normal University, Hangzhou 310018, Zhejiang Province, China
Author contributions: Fang JX and Liu L collected the family data, reviewed the literature, and participated in manuscript writing; Zhang JS and Wang MM assisted in literature retrieval and review; Wang MM provided critical advice and revised the manuscript; all authors reviewed the final manuscript.
Supported by Zhejiang Provincial Natural Science Foundation of China , No. LQ19H050003 ; and General Project Funds from the Health Department of Zhejiang Province , No. 2020KY439 .
Informed consent statement: Informed consent was obtained from the patient for the publication of this case report.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
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: Lin Liu, PhD, Doctor, Department of Nephrology, Zhejiang Provincial People’s Hospital, Affiliated People’s Hospital, Hangzhou Medical College, No. 158 Shangtang Road, Hangzhou 310014, Zhejiang Province, China. colin_ll@163.com
Received: December 21, 2021
Peer-review started: December 21, 2021
First decision: April 8, 2022
Revised: April 15, 2022
Accepted: May 28, 2022
Article in press: May 28, 2022
Published online: July 16, 2022
Peer-review started: December 21, 2021
First decision: April 8, 2022
Revised: April 15, 2022
Accepted: May 28, 2022
Article in press: May 28, 2022
Published online: July 16, 2022
Core Tip
Core Tip: We report a novel SALL1 exon 2 (c.3437delG) mutation and clinical syndrome with kidney disease, bilateral overlapping toes, unilateral dysplastic external ears, and sensorineural hearing loss in a four-generation Chinese family. As patients with kidney diseases do not have specific clinical presentations, symptoms other than kidney disease were relatively hidden or easily ignored, thus resulting in missed diagnosis. Gene sequencing is recommended in patients with a family history and with extrarenal phenotypes to avoid blind use of immunosuppressive drugs, which may cause adverse effects.