Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Aug 16, 2023; 11(23): 5567-5572
Published online Aug 16, 2023. doi: 10.12998/wjcc.v11.i23.5567
Townes–Brocks syndrome with adult renal impairment in a Chinese family: A case report
Jing Wu, Jun Zhang, Tang-Li Xiao, Ting He
Jing Wu, Jun Zhang, Tang-Li Xiao, Ting He, Department of Nephrology, The Key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Chongqing Clinical Research Center of Kidney and Urology Diseases, Xinqiao Hospital, Army Medical University (Third Military Medical University), Chongqing 400037, China
Author contributions: He T designed the research study; Wu J and Zhang J performed the research; He T and Xiao TL analyzed the data and wrote the manuscript; all authors have read and approve the final manuscript.
Supported by Joint Medical Project of Science and Technology Commission of Chongqing, No. 2021MSXM164.
Informed consent statement: Written informed consent to participate in the study was obtained from the parents of the patients.
Conflict-of-interest statement: The authors have no conflicts of interest to declare.
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: Ting He, Doctor, Department of Nephrology, The Key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Chongqing Clinical Research Center of Kidney and Urology Diseases, Xinqiao Hospital, Army Medical University (Third Military Medical University), No. 83 Xinqiao Street, Shapingba District, Chongqing 400037, China. tingsr2000@sina.com
Received: May 4, 2023
Peer-review started: May 4, 2023
First decision: June 12, 2023
Revised: June 28, 2023
Accepted: July 27, 2023
Article in press: July 27, 2023
Published online: August 16, 2023
Abstract
BACKGROUND

Townes–Brocks syndrome (TBS) is a rare autosomal dominant syndrome that is characterized by a triad of imperforate anus, dysplastic ears, and thumb malformations. Heterozygous variants of SALL1 are responsible for this syndrome. Renal structural abnormalities and functional impairments are often reported in TBS patients.

CASE SUMMARY

We report a case of TBS in a Chinese family. The index patients showed obvious renal atrophy and renal failure. TBS was suggested after a physical examination and pedigree analysis. Whole exome sequencing revealed a heterozygous variant of SALL1. The variant (NM_001127892 c.1289_c.1290 insC) led to a read-frame shift of the encoded protein, which was confirmed by Sanger sequencing. The variant cosegregated with the phenotype among affected members.

CONCLUSION

A novel variant in SALL1 gene may be the molecular pathogenic basis of this disorder.

Keywords: Townes-Brocks syndrome, SALL1, Renal impairment, Pedigree, Whole exon sequencing, Case report

Core Tip: Townes-Brocks syndrome (TBS) is a rare autosomal dominant syndrome, which is caused by the mutations of SALL1. We report a case of TBS with renal impairment in a Chinese family. TBS was suspected and a heterozygous variant of SALL1 was revealed by whole exome sequencing. The variant led to a read-frame shift of the encoded protein. The variant co-segregated with the phenotype among affected members, which suggested that the variant of SALL1 might be the molecular pathogenic basis of this disorder.