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

作　　者：Wei Hou Guifang Huang Hongyu Wei Wenwei Li Houfeng Huang Yuling Qiu Hengying Zhu Huifeng Han Ping Chen Xue Zhang 

机构地区：[1]Collaborative Innovation Centre of Regenerative Medicine and Medical BioResource Developmentand Application Coconstructed by the Province and Ministry,Guangxi Medical University,Nanning,Guangxi 530021,China [2]NHC Key Laboratory of Thalassemia Medicine,Nanning,Guangxi 530021,China [3]Guangxi Key Laboratory of Thalassemia Research,Life Sciences Institute,Guangxi Medical University,Nanning,Guangxi 530021,China [4]Department of Eugenic Genetics,Baise Maternal and Child Health Hospital,Baise,Guangxi 533000,China [5]Department of Organic Chemistry and Medicinal Chemistry,Pharmaceutical College,Guangxi Medical University,Nanning,Guangxi 530021,China [6]Department of Ultrasound Imaging,Baise Maternal and Child Health Hospital,Baise,Guangxi 533000,China [7]Department of Bioinformatics,Berry Genomics Co.,Ltd.,Beijing 102206,China [8]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

出　　处：《Genes & Diseases》2024年第6期107-110,共4页基因与疾病（英文）

基　　金：funded by the Guangxi Science and Technology Department (China) (No.Guike AD23026025).

摘　　要：Fetal hydrops is a rare but serious fetal developmental abnormality characterized by the abnormal accumulation of large amounts of fluid in the fetus resulting in generalized edema,and clinically manifested by abnormal functioning of multiple organs and systems.1 The ryanodine receptor 1(RYR1)gene encodes the ryanodine receptor found in skeletal muscle and is expressed predominantly in cardiac and skeletal muscle.

关 键 词：FETAL ORGANS FETUS 

分 类 号：R71[医药卫生—妇产科学]