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Rapid Communication | Open Access

Identification of respiratory chain complex Ⅰ deficiency due to NDUFA5 variants as a novel cause of infantile fatal disease

Yang Wanga,b,h, Xi Yangc,h, Xue Yanc,h, Yumin Zhuc, Xue Xiac, Ting Lic, Yi Liaob,d, Bingkun Leie( ), Jingmin Yangc,f,g( ), Deyuan Lia,b( )
Department of Pediatric, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China
Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, Sichuan 610041, China
Shanghai WeHealth Biomedical Technology Co., Ltd., Shanghai 201315, China
Department of Radiology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China
Obstetrics and Gynecology Hospital, Fudan University, Shanghai Key Lab of Reproduction and Development, Shanghai Key Lab of Female Reproductive Endocrine Related Diseases, Shanghai 200433, China
Key Laboratory of Birth Defects and Reproductive Health of National Health and Family Planning Commission (Chongqing Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning, Science and Technology Research Institute), Chongqing 400020, China
State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai 2004382, China

h These authors contribute equally to this work.

Peer review under the responsibility of Chongqing Medical University.

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Genes & Diseases
Volume 13 Issue 4,
July 2026
DOI: 10.1016/j.gendis.2025.101920

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Cite this article:
Wang Y, Yang X, Yan X, et al. Identification of respiratory chain complex Ⅰ deficiency due to NDUFA5 variants as a novel cause of infantile fatal disease. Genes & Diseases, 2026, 13(4). https://doi.org/10.1016/j.gendis.2025.101920

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Received: 07 February 2025
Published: 06 November 2025
© 2025 The Authors.

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