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Original Report: Patient-Oriented, Translational Research

Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis

Wu H.a · Xu Q.a · Xie J.a · Ma J.a · Qiao P.a · Zhang W.a · Yu H.a · Wang W.a · Qian Y.a · Zhang Q.a · Guo Y.a · Tang Y.b · Chen X.a · Wang Z.a · Chen N.a

Author affiliations

aDepartment of Nephrology, Institute of Nephrology, and bDepartment of Radiology, Shanghai Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

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Am J Nephrol 2017;46:55-63

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Article / Publication Details

First-Page Preview
Abstract of Original Report: Patient-Oriented, Translational Research

Received: March 30, 2017
Accepted: May 09, 2017
Published online: June 16, 2017
Issue release date: July 2017

Number of Print Pages: 9
Number of Figures: 1
Number of Tables: 4

ISSN: 0250-8095 (Print)
eISSN: 1421-9670 (Online)

For additional information: https://www.karger.com/AJN

Abstract

Background: Few genetic studies have focused on unilateral renal agenesis (URA), which is a disorder with insidious clinical manifestations and a tendency to result in renal failure. We aimed to detect pathogenic mutations in nephrogenesis-related genes, which were identified by a literature review conducted among a large cohort of Chinese Han patients with URA. Methods: Totally, 86 unrelated URA patients were included. All URA patients were diagnosed by employing radiological methods. Patients with a solitary kidney owing to nephrectomy or renal atrophy due to secondary factors were excluded. Nine (10.5%) patients had a family history of abnormal nephrogenesis. Fifteen (17.4%) had other malformations in the urogenital system. All coding exons and adjacent intron regions of 25 genes were analyzed using next-generation sequencing and validated by Sanger sequencing and 100 ethnically matched healthy controls. Results: Ten conserved mutations (9 missense mutations and 1 deletion mutation) were identified in SALL1, EYA1, RET, HNF1B, DSTYK, WNT4, and SIX5. All mutations were novel or rare (frequency <0.1%) in the public databases and absent from the 100 healthy controls. Nine patients carried mutations in candidate genes. Most of the patients carried one single heterozygous mutation, except for 2, who respectively carried compound heterozygous mutations and 2 single heterozygous mutations. In addition, 2 patients shared the same mutation in DSTYK. Conclusion: A total of 10.5% of our URA cases could be explained by mutations in our candidate genes. The mutations in nephrogenesis-related genes in the Chinese Han patients with URA had a decentralized distribution without any hotspot mutations.

© 2017 S. Karger AG, Basel


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Article / Publication Details

First-Page Preview
Abstract of Original Report: Patient-Oriented, Translational Research

Received: March 30, 2017
Accepted: May 09, 2017
Published online: June 16, 2017
Issue release date: July 2017

Number of Print Pages: 9
Number of Figures: 1
Number of Tables: 4

ISSN: 0250-8095 (Print)
eISSN: 1421-9670 (Online)

For additional information: https://www.karger.com/AJN


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