Case Report: A Novel Heterozygous Mutation of CD2AP in a Chinese Family With Proteinuria Leads to Focal Segmental Glomerulosclerosis.
Case Report: A Novel Heterozygous Mutation of CD2AP in a Chinese Family With Proteinuria Leads to Focal Segmental Glomerulosclerosis.
复制标题
DOI：
10.3389/fped.2021.687455
复制
发表时间：
2021
影响因子：
2.6
通讯作者：
Liu L
中科院分区：
文献类型：
--
作者：
Liu YX;Zhang AQ;Luo FM;Sheng Y;Wang CY;Dong Y;Fan L;Liu L
Idiopathic focal segmental glomerulosclerosis (FSGS) is a relatively frequent kidney disorder that manifest clinically as proteinuria and progressive loss of renal function. Genetic factors play a dominant role in the occurrence of FSGS. CD2-associated protein (CD2AP) is an adapter molecule and is essential for the slit-diaphragm assembly and function. Mutations in the CD2AP gene can contribute to FSGS development. Here, we describe a Chinese family of four generations with unexplained proteinuria. The proband, a 12-year-old boy, was diagnosed as FSGS. Whole-exome sequencing (WES) revealed an unknown frameshift insertion mutation (p.K579Efs*7) of CD2AP gene that leads to a truncation of CD2AP protein. Bioinformatics strategies predicted that the novel mutation was pathogenic. The mutation was absent in either healthy family members or our 200 healthy controls. In summary, we used WES to explore the genetic lesion of FSGS patients and identified a novel mutation in CD2AP gene. This work broadens the mutation spectrum of CD2AP gene and provides data for genetic counseling to additional FSGS patients.
登录
查看更多内容
影响因子：
3.5
作者：
Esposito, Teresa;Lea, Rod A.;Griffiths, Lyn R.
通讯作者：
Griffiths, Lyn R.
影响因子：
64.5
作者：
Dustin, ML;Olszowy, MW;Shaw, AS
通讯作者：
Shaw, AS
全外显子组测序在中国遗传性球形红细胞增多症家系中发现了β血影蛋白的新突变（p.Ala1884Pro）
影响因子：
3.5
作者：
Fan, Liang-Liang;Liu, Ji-Shi;Xiang, Rong
通讯作者：
Xiang, Rong
影响因子：
13.6
作者：
Cong, Evelyne Huynh;Bizet, Albane A.;Antignac, Corinne
通讯作者：
Antignac, Corinne
影响因子：
15.9
作者：
Schwarz, K;Simons, MS;Mundel, P
通讯作者：
Mundel, P