Xiao TL, Zhang J, Liu L, Zhang B. Hepatocyte nuclear factor 1B mutation in a Chinese family with renal cysts and diabetes syndrome: A case report. World J Clin Cases 2021; 9(28): 8461-8469 [PMID: 34754854 DOI: 10.12998/wjcc.v9.i28.8461]
Corresponding Author of This Article
Bo Zhang, PhD, Professor, 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. bo_zhang@tmmu.edu.cn
Research Domain of This Article
Genetics & Heredity
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. Oct 6, 2021; 9(28): 8461-8469 Published online Oct 6, 2021. doi: 10.12998/wjcc.v9.i28.8461
Hepatocyte nuclear factor 1B mutation in a Chinese family with renal cysts and diabetes syndrome: A case report
Tang-Li Xiao, Jun Zhang, Li Liu, Bo Zhang
Jun Zhang, Li Liu, Bo Zhang, 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: Xiao TL performed the clinical investigations and treatments; Zhang J and Liu L performed the histopathology study; Xiao TL and Zhang J reviewed the literature and contributed to manuscript drafting; Zhang B revised the manuscript; all authors issued final approval for the version to be submitted.
Supported bythe National Natural Science Foundation of China, No. 81500561.
Informed consent statement: Written informed consent was obtained from the proband and her parents for the publication of this case report and the accompanying images.
Conflict-of-interest statement: The authors declare that they have no competing interests to report.
CARE Checklist (2016) statement: All 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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Bo Zhang, PhD, Professor, 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. bo_zhang@tmmu.edu.cn
Received: February 2, 2021 Peer-review started: February 2, 2021 First decision: June 15, 2021 Revised: June 18, 2021 Accepted: August 16, 2021 Article in press: August 16, 2021 Published online: October 6, 2021 Processing time: 238 Days and 7 Hours
Abstract
BACKGROUND
Renal cysts and diabetes (RCAD) syndrome is an autosomal dominant diabetic renal disease. Precise molecular diagnosis of RCAD syndrome has proven valuable for understanding its mechanism and personalized therapy.
CASE SUMMARY
A RCAD patient and her family were studied to investigate potential responsible genes by the whole exome sequencing (WES). Candidate pathogenic variants were validated by Sanger sequencing. The clinical characteristics of RCAD patient were collected from medical records. Unlike those typical RCAD patients, we observed renal manifestation and prediabetes phenotype, but not reproductive organ phenotype and hypomagnesaemia. A novel 7-bp deletion mutation in exon 4 of the hepatocyte nuclear factor 1B, NM_000458: c.882_888del (p.V294fs), was identified by WES and confirmed by Sanger sequencing.
CONCLUSION
This novel mutation identified in a Chinese family with RCAD syndrome might be the molecular pathogenic basis of this disorder.
Core Tip: Renal cysts and diabetes (RCAD) syndrome is an autosomal dominant diabetic renal disease. Precise molecular diagnosis of RCAD syndrome has proven valuable for understanding its mechanism and selecting optimal therapy. A novel deletion mutation of hepatocyte nuclear factor 1B gene (NM_000458: c.882_888del, p.V294fs) was identified in a Chinese family with RCAD syndrome by whole exome sequencing and Sanger sequencing. Considering the gene function and the genotype-phenotype correlation, mutation location, and its conservativeness, this mutation is considered to play a pathogenic role in the development of RCAD syndrome.
