A novel homozygous intronic variant affecting splicing in the RYR1 gene contributes to fetal hydrops

• Wei Hou,
• Guifang Huang,
• Hongyu Wei,
• Wenwei Li,
• Houfeng Huang,
• Yuling Qiu,
• Hengying Zhu,
• Huifeng Han,
• Ping Chen,
• Xue Zhang

Affiliations

Wei Hou

Collaborative Innovation Centre of Regenerative Medicine and Medical BioResource Development and Application Co-constructed by the Province and Ministry, Guangxi Medical University, Nanning, Guangxi 530021, China; NHC Key Laboratory of Thalassemia Medicine, Nanning, Guangxi 530021, China; Guangxi Key Laboratory of Thalassemia Research, Life Sciences Institute, Guangxi Medical University, Nanning, Guangxi 530021, China

Guifang Huang

Department of Eugenic Genetics, Baise Maternal and Child Health Hospital, Baise, Guangxi 533000, China

Hongyu Wei

Department of Organic Chemistry and Medicinal Chemistry, Pharmaceutical College, Guangxi Medical University, Nanning, Guangxi 530021, China

Wenwei Li

NHC Key Laboratory of Thalassemia Medicine, Nanning, Guangxi 530021, China; Guangxi Key Laboratory of Thalassemia Research, Life Sciences Institute, Guangxi Medical University, Nanning, Guangxi 530021, China

Houfeng Huang

Department of Ultrasound Imaging, Baise Maternal and Child Health Hospital, Baise, Guangxi 533000, China

Yuling Qiu

NHC Key Laboratory of Thalassemia Medicine, Nanning, Guangxi 530021, China; Guangxi Key Laboratory of Thalassemia Research, Life Sciences Institute, Guangxi Medical University, Nanning, Guangxi 530021, China

Hengying Zhu

NHC Key Laboratory of Thalassemia Medicine, Nanning, Guangxi 530021, China; Guangxi Key Laboratory of Thalassemia Research, Life Sciences Institute, Guangxi Medical University, Nanning, Guangxi 530021, China

Huifeng Han

Department of Bioinformatics, Berry Genomics Co., Ltd., Beijing 102206, China

Ping Chen

NHC Key Laboratory of Thalassemia Medicine, Nanning, Guangxi 530021, China; Guangxi Key Laboratory of Thalassemia Research, Life Sciences Institute, Guangxi Medical University, Nanning, Guangxi 530021, China; Corresponding author. Guangxi Key Laboratory of Thalassemia Research, Life Sciences Institute, Guangxi Medical University, Nanning, Guangxi 530021, China.

Xue Zhang

Collaborative Innovation Centre of Regenerative Medicine and Medical BioResource Development and Application Co-constructed by the Province and Ministry, Guangxi Medical University, Nanning, Guangxi 530021, China; McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing 100730, China; Corresponding author. Collaborative Innovation Centre of Regenerative Medicine and Medical BioResource Development and Application Co-constructed by the Province and Ministry, Guangxi Medical University, Nanning, Guangxi 530021, China.