Kidney International Reports (Dec 2024)
CFAP47 is Implicated in X-Linked Polycystic Kidney Disease
- Takayasu Mori,
- Takuya Fujimaru,
- Chunyu Liu,
- Karynne Patterson,
- Kouhei Yamamoto,
- Takefumi Suzuki,
- Motoko Chiga,
- Akinari Sekine,
- Yoshifumi Ubara,
- Danny E. Miller,
- Miranda P.G. Zalusky,
- Shintaro Mandai,
- Fumiaki Ando,
- Yutaro Mori,
- Hiroaki Kikuchi,
- Koichiro Susa,
- Jessica X. Chong,
- Michael J. Bamshad,
- Yue-Qiu Tan,
- Feng Zhang,
- Shinichi Uchida,
- Eisei Sohara,
- Chia-Lin Wei,
- Michael J. Bamshad,
- Evan E. Eichler,
- Kailyn Anderson,
- Peter Anderson,
- Tamara J. Bacus,
- Sabrina Best,
- Elizabeth E. Blue,
- Katherine Brower,
- Kati J. Buckingham,
- Brianne Carroll,
- Silvia Casadei,
- Jessica X. Chong,
- Nikhita Damaraju,
- Colleen P. Davis,
- Christian D. Frazar,
- Sophia Gibson,
- Joy Goffena,
- William W. Gordon,
- Jonas A. Gustafson,
- William T. Harvey,
- Martha Horike-Pyne,
- Jameson R. Hurless,
- Caitlin Jacques,
- Gail P. Jarvik,
- Eric Johanson,
- J. Thomas Kolar,
- Xiaomeng Liu,
- Colby T. Marvin,
- Sean McGee,
- Holli Meyers,
- Danny E. Miller,
- Patrick M. Nielsen,
- Karynne Patterson,
- Aparna Radhakrishnan,
- Matthew A. Richardson,
- Erica L. Ryke,
- Aliya Sarkytbayeva,
- Tristan Shaffer,
- Kathryn M. Shively,
- Olivia M. Sommers,
- Sophie H.R. Storz,
- Joshua D. Smith,
- Lea M. Starita,
- Monica Tackettl,
- Sydney A. Ward,
- Jeffrey M. Weiss,
- Qian Yi,
- Miranda P.G. Zalusky,
- Michael J. Bamshad,
- Danny E. Miller,
- Evan E. Eichler,
- Heather Mefford
Affiliations
- Takayasu Mori
- Department of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan
- Takuya Fujimaru
- Department of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan
- Chunyu Liu
- Soong Ching Ling Institute of Maternal and Child Health, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; State Key Laboratory of Genetic Engineering, Institute of Medical Genetics and Genomics, Fudan University, Shanghai, China
- Karynne Patterson
- Department of Genome Sciences, University of Washington, Seattle, Washington, USA
- Kouhei Yamamoto
- Department of Comprehensive Pathology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan
- Takefumi Suzuki
- Department of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan
- Motoko Chiga
- Clinical Laboratory, Institute of Science Tokyo Hospital, Tokyo, Japan
- Akinari Sekine
- Department of Nephrology and Rheumatology, Toranomon Hospital, Japan; Okinaka Memorial Institute for Medical Research, Toranomon Hospital, Tokyo, Japan
- Yoshifumi Ubara
- Department of Nephrology and Rheumatology, Toranomon Hospital, Japan; Okinaka Memorial Institute for Medical Research, Toranomon Hospital, Tokyo, Japan
- Danny E. Miller
- Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA
- Miranda P.G. Zalusky
- Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA
- Shintaro Mandai
- Department of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan
- Fumiaki Ando
- Department of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan
- Yutaro Mori
- Department of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan
- Hiroaki Kikuchi
- Department of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan
- Koichiro Susa
- Department of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan
- Jessica X. Chong
- Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA
- Michael J. Bamshad
- Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA
- Yue-Qiu Tan
- Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha, China; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China
- Feng Zhang
- Soong Ching Ling Institute of Maternal and Child Health, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; State Key Laboratory of Genetic Engineering, Institute of Medical Genetics and Genomics, Fudan University, Shanghai, China
- Shinichi Uchida
- Department of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan
- Eisei Sohara
- Department of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan; Correspondence: Eisei Sohara, Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo, Tokyo 113-8519, Japan.
- Chia-Lin Wei
- Michael J. Bamshad
- Evan E. Eichler
- Kailyn Anderson
- Peter Anderson
- Tamara J. Bacus
- Sabrina Best
- Elizabeth E. Blue
- Katherine Brower
- Kati J. Buckingham
- Brianne Carroll
- Silvia Casadei
- Jessica X. Chong
- Nikhita Damaraju
- Colleen P. Davis
- Christian D. Frazar
- Sophia Gibson
- Joy Goffena
- William W. Gordon
- Jonas A. Gustafson
- William T. Harvey
- Martha Horike-Pyne
- Jameson R. Hurless
- Caitlin Jacques
- Gail P. Jarvik
- Eric Johanson
- J. Thomas Kolar
- Xiaomeng Liu
- Colby T. Marvin
- Sean McGee
- Holli Meyers
- Danny E. Miller
- Patrick M. Nielsen
- Karynne Patterson
- Aparna Radhakrishnan
- Matthew A. Richardson
- Erica L. Ryke
- Aliya Sarkytbayeva
- Tristan Shaffer
- Kathryn M. Shively
- Olivia M. Sommers
- Sophie H.R. Storz
- Joshua D. Smith
- Lea M. Starita
- Monica Tackettl
- Sydney A. Ward
- Jeffrey M. Weiss
- Qian Yi
- Miranda P.G. Zalusky
- Michael J. Bamshad
- Danny E. Miller
- Evan E. Eichler
- Heather Mefford
- DOI
- https://doi.org/10.1016/j.ekir.2024.09.013
- Journal volume & issue
-
Vol. 9,
no. 12
pp. 3580 – 3591
Abstract
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is a well-described condition in which approximately 80% of all cases have a genetic explanation; and among sporadic cases without a family history, the genetic bases remain unclear in approximately 30% of cases. This study aimed to identify genes associated with polycystic kidney disease (PKD) in patients with sporadic cystic kidney disease in which a clear genetic change was not identified in established genes. Methods: A next-generation sequencing panel analyzed known genes related to kidney cysts in 118 sporadic cases, followed by whole-genome sequencing (WGS) on 47 unrelated individuals without identified candidate variants. Immunohistology examination was then conducted on both human kidney tissue and kidneys from CFAP47−/Y mice. Results: Three male patients were found to have rare missense variants in the X-linked gene cilia and flagella-associated protein 47 (CFAP47), none of whom had a family history of the condition. CFAP47 was expressed in primary cilia of human kidney tubules, and knockout (KO) mice exhibited vacuolation of tubular cells and tubular dilation, providing evidence that CFAP47 is a causative gene involved in cyst formation. Conclusion: This discovery of CFAP47 as a newly identified gene associated with PKD, displaying X-linked inheritance, emphasizes the need for further cases to understand the role of CFAP47 in PKD.
Keywords
