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Rapid Communication | Open Access

Whole exome sequencing and functional validation identify CAPN1 variants as a cause of Chinese moyamoya disease

Yue Wanga,b,1, Zhengxing Zouc,1, Zhibin Yanga, Zhengshan Zhangc, Jun Xua, Fangbin Haoc, Juan Shena, Cong Hanc, Wanyang Liua( ), Lian Duanc( )
Department of Nutrition and Food Hygiene, School of Public Health, China Medical University, Shenyang, Liaoning 110122, China
Division of Pneumoconiosis, School of Public Health, China Medical University, Shenyang, Liaoning 110122, China
Department of Neurosurgery, The Fifth Medical Centre, Chinese PLA General Hospital (Former 307th Hospital of the PLA), Beijing 100071, China

1 These authors contributed equally to this work.

Peer review under responsibility of Chongqing Medical University.

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Genes & Diseases
Volume 11 Issue 4,
July 2024
Article number: 101090
DOI: 10.1016/j.gendis.2023.101090

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Cite this article:
Wang Y, Zou Z, Yang Z, et al. Whole exome sequencing and functional validation identify CAPN1 variants as a cause of Chinese moyamoya disease. Genes & Diseases, 2024, 11(4): 101090. https://doi.org/10.1016/j.gendis.2023.101090

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Received: 13 December 2022
Published: 11 September 2023
© 2023 The Authors.

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