Fang JX, Zhang JS, Wang MM, Liu L. Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case report. World J Clin Cases 2022; 10(20): 7068-7075 [PMID: 36051141 DOI: 10.12998/wjcc.v10.i20.7068]
Corresponding Author of This Article
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
Research Domain of This Article
Urology & Nephrology
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 16, 2022; 10(20): 7068-7075 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
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 byZhejiang 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 Processing time: 195 Days and 20.2 Hours
Abstract
BACKGROUND
Approximately 10% of adults and nearly all children who receive renal replacement therapy have inherited risk factors or are related to genetic factors. In the past, due to the limitations of detection technology and the nonspecific manifestations of uraemia, the etiological diagnosis is unclear. In addition to common monogenic diseases and complex disorders, advanced testing techniques have led to the recognition of more hereditary renal diseases. Here, we report a four-generation Chinese family in which four individuals had a novel SALL1 mutation and presented with uraemia or abnormal urine tests.
CASE SUMMARY
A 32-year-old man presented with end-stage renal disease with a 4-year history of dialysis. His father and paternal aunt both had a history of unexplained renal failure with haemodialysis, and his 10-year-old daughter presented with proteinuria. The patient had multiple congenital abnormalities, including bilateral overlapping toes, unilateral dysplastic external ears, and sensorineural hearing loss. His family members also presented with similar defects. Genetic testing revealed that the proband carried a novel heterozygous shift mutation in SALL1_exon 2 (c.3437delG), and Sanger sequencing confirmed the same mutation in all affected family members.
CONCLUSION
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.
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.
