Targeted lipidomics reveals plasmalogen phosphatidylethanolamines and storage triacylglycerols as the major systemic lipid aberrations in Bietti crystalline corneoretinal dystrophy  

作　　者：Shijing Wu Sin Man Lam Huajin Li Binhua Jiang Zixi Sun Tian Zhu Xing Wei Xuan Zou Guanghou Shui Ruifang Sui 

机构地区：[1]Department of Ophthalmology,State Key Laboratory of Complex Severe and Rare Diseases,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100730,China [2]State Key Laboratory of Molecular Developmental Biology,Institute of Genetics and Developmental Biology,Chinese Academy of Sciences,Beijing 100101,China [3]Department of Ophthalmology,The First Affiliated Hospital of Fujian Medical University,Fuzhou,Fujian 350004,China [4]LipidALL Technologies Company Limited,Changzhou,Jiangsu 213022,China

出　　处：《Journal of Genetics and Genomics》2022年第4期380-383,共4页遗传学报（英文版）

基　　金：supported by the National Natural Science Foundation of China (81873687);the Beijing Natural Science Foundation (7212071);the Fundamental Research Funds for the Central Universities (3332020015);Youth Program of Peking Union Medical College Hospital (pumch201911263)

摘　　要：First reported by Bietti in 1937(Bietti,1937),Bietti crystalline corneoretinal dystrophy(BCD,OMIM 210370)is a rare,autosomal recessively inherited progressive retinal disease.The disease is more common in Asian populations,particularly in Chinese and Japanese(Li et al.,2004).The prevalence of BCD is estimated at 1 in 67,000,representing around only 21,000 individuals in China(Ng et al.,2016).CYP4V2 was identified as the disease-causing gene in 2004.It encodes a member of the cytochrome P450 family 4.

关 键 词：representing rare 

分 类 号：R774.1[医药卫生—眼科]