Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism  

作　　者：Lijuan Zhong Yin Li Xiaohong He Subrata Kumar Dey Quanfu Zhang Santasree Banerjee 

机构地区：[1]Division of Maternal-Fetal Medicine,Affiliated Shenzhen Bao’an Women’s and Children’s Hospital,Jinan University,Shenzhen,Guangdong 518102,China [2]Department of Oncology,The First Affiliated Hospital of Jinan University,Jinan University,Guangzhou,Guangdong 510632,China [3]Department of Biotechnology,Centre for Genetic Studies,School of Biotechnology and Biological Sciences,Maulana Abul Kalam Azad University of Technology(Formerly West Bengal University of Technology),Kolkata,West Bengal 700064,India [4]Department of Genetics,College of Basic Medical Sciences,Jilin University,Changchun,Jilin 130021,China

出　　处：《Chinese Medical Journal》2023年第21期2635-2637,共3页中华医学杂志（英文版）

基　　金：supported by a grant from the Shenzhen Key Medical Discipline Construction Fund(No.SZXK028).

摘　　要：To the Editor:Alport syndrome(AS)is a rare hereditary progressive nephropathy manifested with hematuria,proteinuria,gradual renal failure leading to end-stage renal disease(ESRD),sensorineural hearing loss,and ocular abnormalities.^([1])Germline mutations in any of these collagen type IV genes(COL4A3,COL4A4,and COL4A5)cause AS.^([1])Here,we investigated a four-generation Chinese family with AS.The proband was clinically diagnosed with hematuria and proteinuria with an elevated level of plasma creatinine.Later,the proband was diagnosed with ESRD and received renal transplantation.Unlike other AS patients,the proband was identified with astigmatism.

关 键 词：ELEVATED Alport ASTIGMATISM 

分 类 号：R596[医药卫生—内科学]