Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract

Ahn, Yo Han; Lee, Chung; Kim, Nayoung K. D.; Park, Eujin; Kang, Hee Gyung; Ha, Il-Soo; Park, Woong-Yang; Cheong, Hae Il

doi:10.3390/jcm9030751

Open AccessArticle

Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract

by

Yo Han Ahn

^1,2,†,

Chung Lee

^3,4,†,

Nayoung K. D. Kim

³,

Eujin Park

^1,5

,

Hee Gyung Kang

^1,2,6,*

,

Il-Soo Ha

^1,2,6,

Woong-Yang Park

^3,4,7 and

Hae Il Cheong

^1,2,6

¹

Department of Pediatrics, Seoul National University College of Medicine, Seoul 03080, Korea

²

Department of Pediatrics, Seoul National University Children’s Hospital, Seoul 03080, Korea

³

Samsung Genome Institute, Samsung Medical Center, Seoul 06351, Korea

⁴

Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul 06351, Korea

⁵

Department of Pediatrics, Kangnam Sacred Heart Hospital, Hallym University College of Medicine, Seoul 07441, Korea

⁶

Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul 03080, Korea

⁷

Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Suwon 16419, Korea

^*

Author to whom correspondence should be addressed.

^†

These authors equally contributed to this article.

J. Clin. Med. 2020, 9(3), 751; https://doi.org/10.3390/jcm9030751

Submission received: 31 January 2020 / Revised: 28 February 2020 / Accepted: 8 March 2020 / Published: 10 March 2020

(This article belongs to the Section Nephrology & Urology)

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Abstract

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. The search for genetic causes of CAKUT has led to genetic diagnosis in approximately 5–20 % of CAKUT patients from Western countries. In this study, genetic causes of CAKUT in Korean children were sought using targeted exome sequencing (TES) of 60 genes reported to cause CAKUT in human or murine models. We identified genetic causes in 13.8% of the 94 recruited patients. Pathogenic single nucleotide variants of five known disease-causing genes, HNF1B, PAX2, EYA1, UPK3A, and FRAS1 were found in 7 cases. Pathogenic copy number variations of 6 patients were found in HNF1B, EYA1, and CHD1L. Genetic abnormality types did not significantly differ according to CAKUT phenotypes. Patients with pathogenic variants of targeted genes had syndromic features more frequently than those without (p < 0.001). This is the first genetic analysis study of Korean patients with CAKUT. Only one-seventh of patients were found to have pathogenic mutations in known CAKUT-related genes, indicating that there are more CAKUT-causing genes or environmental factors to discover.

Keywords: congenital anomalies of kidney and urinary tract; genetic analysis; single nucleotide variant; copy number variant

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MDPI and ACS Style

Ahn, Y.H.; Lee, C.; Kim, N.K.D.; Park, E.; Kang, H.G.; Ha, I.-S.; Park, W.-Y.; Cheong, H.I. Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract. J. Clin. Med. 2020, 9, 751. https://doi.org/10.3390/jcm9030751

AMA Style

Ahn YH, Lee C, Kim NKD, Park E, Kang HG, Ha I-S, Park W-Y, Cheong HI. Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract. Journal of Clinical Medicine. 2020; 9(3):751. https://doi.org/10.3390/jcm9030751

Chicago/Turabian Style

Ahn, Yo Han, Chung Lee, Nayoung K. D. Kim, Eujin Park, Hee Gyung Kang, Il-Soo Ha, Woong-Yang Park, and Hae Il Cheong. 2020. "Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract" Journal of Clinical Medicine 9, no. 3: 751. https://doi.org/10.3390/jcm9030751

APA Style

Ahn, Y. H., Lee, C., Kim, N. K. D., Park, E., Kang, H. G., Ha, I.-S., Park, W.-Y., & Cheong, H. I. (2020). Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract. Journal of Clinical Medicine, 9(3), 751. https://doi.org/10.3390/jcm9030751

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Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract

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