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Rapid Communication | Open Access

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome

Ronen Schneidera, Shirlee Shrila, Florian Buergera, Konstantin Deutscha, Kirollos Yousefa, Camille N. Franka, Ana C. Onuchic-Whitforda,b, Thomas M. Kitzlera, Youying Maoa, Verena Klämbta, Muhammad Y. Zahoora,c, Katharina Lemberga, Amar J. Majmundara, Bshara Mansoura, Ken Saidaa, Steve Seltzsama, Caroline M. Kolvenbacha,d, Lea Maria Merza,e, Nils D. Mertensa, Tobias Hermlea, Nina Manna, Dalia Pantela,f, Abdul A. Halawia, Aaron Baoa, Luca Schierbauma, Sophia Schneidera, Daanya Salmanullaha, Iddo Z. Ben-Dovg, Itamar Sagivg, Loai A. Eidh, Hazem Subhi H. Awadh, Muna Al Saffara,i, Neveen A. Solimanj,k, Marwa M. Nabhanm,n, Jameela A. Karim,n, Sherif El Desokym,n, Mohamed A. Shalabym,n, Said Oodao, Hanan M. Fathyp, Shrikant Maneq, Richard P. Liftonq, Michael J.G. Somersa( ), Friedhelm Hildebrandta( )
Department of Pediatrics, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA
Division of Renal Medicine, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, USA
Institute of Biochemistry & Biotechnology, University of Veterinary & Animal Sciences, Lahore 54000, Pakistan
Institute of Anatomy, Medical Faculty, University of Bonn, Bonn D-53113, Germany
Department of Pediatrics, University Hospital Leipzig, Leipzig 04103, Germany
Institute of Human Genetics, Heidelberg University, Heidelberg 69117, Germany
Department of Nephrology and Hypertension, Hadassah Medical Center and the Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel
Pediatric Nephrology Department, Dubai Hospital, Dubai 14660, United Arab Emirates
Department of Pediatrics, United Arab Emirates University, Abu Dhabi 15551, United Arab Emirates
Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo 11562, Egypt
Egyptian Group for Orphan Renal Diseases (EGORD), Cairo 11451, Egypt
Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia
Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah 21589, Saudi Arabia
Experimental and Clinical Internal Medicine Department, Medical Research Institute, Alexandria University, Alexandria 21511, Egypt
Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria 21526, Egypt
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA

Peer review under responsibility of Chongqing Medical University.

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References

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Sadowski CE, Lovric S, Ashraf S, et al. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2015;26(6):1279-1289.
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Genes & Diseases
Volume 12 Issue 2,
March 2025
Article number: 101280
DOI: 10.1016/j.gendis.2024.101280
Cite this article:
Schneider R, Shril S, Buerger F, et al. Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome. Genes & Diseases, 2025, 12(2): 101280. https://doi.org/10.1016/j.gendis.2024.101280

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Received: 04 September 2023
Published: 28 March 2024
© 2024 The Authors.

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
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