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ResearchIn-Press PreviewGeneticsNephrology
Open Access | 
10.1172/JCI188807
A gain-of-function mutation in ATP6V0A4 drives primary distal renal tubular alkalosis with enhanced V-ATPase activity
Si-qi Peng,1 Qian-qian Wu,1 Wan-yi Wang,2 Yi-Lin Zhang,1 Rui-ning Zhou,3 Jun Liao,4 Jin-xuan Wei,1 Yan Yang,1 Wen Shi,1 Jun-lan Yang,1 Xiao-xu Wang,1 Zhi-yuan Wei,1 Jia-xuan Sun,1 Lu Huang,3 Hong Fan,5 Hui Cai,6 Cheng-kun Wang,2 Xin-hua Li,7 Ting-song Li,8 Bi-Cheng Liu,1 Xiao-liang Zhang,1 and Bin Wang1
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Peng, S. in: JCI | PubMed | Google Scholar
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Wu, Q. in: JCI | PubMed | Google Scholar
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Wang, W. in: JCI | PubMed | Google Scholar
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Zhang, Y. in: JCI | PubMed | Google Scholar
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Zhou, R. in: JCI | PubMed | Google Scholar
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Liao, J. in: JCI | PubMed | Google Scholar
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Wei, J. in: JCI | PubMed | Google Scholar
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Yang, Y. in: JCI | PubMed | Google Scholar
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Shi, W. in: JCI | PubMed | Google Scholar
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Yang, J. in: JCI | PubMed | Google Scholar
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Wang, X. in: JCI | PubMed | Google Scholar
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Wei, Z. in: JCI | PubMed | Google Scholar
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Sun, J. in: JCI | PubMed | Google Scholar
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Huang, L. in: JCI | PubMed | Google Scholar
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Fan, H. in: JCI | PubMed | Google Scholar
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Cai, H. in: JCI | PubMed | Google Scholar
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Wang, C. in: JCI | PubMed | Google Scholar
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Li, X. in: JCI | PubMed | Google Scholar
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Li, T. in: JCI | PubMed | Google Scholar
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Liu, B. in: JCI | PubMed | Google Scholar
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Zhang, X. in: JCI | PubMed | Google Scholar
1Department of Nephrology, Zhong Da Hospital, Southeast University School of Medicine, Nanjing, China
2Department of Physiology, School of Basic Medical Science, Nanjing Medical University, Nanjing, China
3Nanjing Jiangbei New Area Biopharmaceutical Public Service Platform Co. Ltd, Nanjing, China
4School of Science, China Pharmaceutical University, Nanjing, China
5Department of Medical Genetics and Developmental Biology, The Key Laborator, Medical School of Southeast University, Ministry of Education, Nanjing, China
6Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, United States of America
7Department of Infectious Diseases, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
8Department of Neurology, Children's Hospital of Chongqing Medical University, Chong Qin, China
Find articles by Wang, B. in: JCI | PubMed | Google Scholar
Published April 29, 2025 - More info
Copyright © 2025, Peng et al. This work is licensed under the Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
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