title: WT1 gene mutations in Chinese children with early onset nephrotic syndrome.
abstract: In Chinese children with steroid-resistant nephrotic syndrome (SRNS), it was reported that NPHS2 mutation was detected in 4.3%, which was lower than that in Caucasians (10-30%). However, there were no data on WT1 mutation in nephrotic syndrome (NS), especially in early-onset NS of Chinese children. Thus, a study, which enrolled 36 Chinese children with early-onset (before 3 y old) NS and steroid resistance if failing steroid therapy (early-group), was conducted. As control, 35 children with SRNS and with disease onset age after 3 y old were also analyzed (control-group). WT1 gene was examined by PCR and direct sequencing. The result showed that in the early-group 6/36 (16.7%) were detected with WT1 mutations. Further analysis according to different onset age revealed that the mutation detection rates of WT1 were 26.3% (5/19), 6.3% (1/16), and 0 (0/1) in children younger than 1 y, 1-2 y, and 2-3 y, respectively. In control-group, no WT1 (0/35) mutation was detected. WT1 mutation combined with NPHS2 variant was detected in a girl. In conclusion, WT1 mutations seemed more common in Chinese children with early-onset NS.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, People's Republic of China.
authors.forename: Jianguo
authors.initials: J
authors.lastname: Li
authors.forename: Jie
authors.initials: J
authors.lastname: Ding
authors.forename: Dan
authors.initials: D
authors.lastname: Zhao
authors.forename: Zihua
authors.initials: Z
authors.lastname: Yu
authors.forename: Qingfeng
authors.initials: Q
authors.lastname: Fan
authors.forename: Yan
authors.initials: Y
authors.lastname: Chen
authors.forename: Hongwen
authors.initials: H
authors.lastname: Zhang
authors.forename: Xuhui
authors.initials: X
authors.lastname: Zhong
authors.forename: Jianping
authors.initials: J
authors.lastname: Huang
authors.forename: Yong
authors.initials: Y
authors.lastname: Yao
authors.forename: Huijie
authors.initials: H
authors.lastname: Xiao
mesh_terms: D017668:Age of Onset; D044466:Asian People / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009154:Mutation; D009404:Nephrotic Syndrome / Q000188:drug therapy / Q000235:genetics*; D013256:Steroids / Q000627:therapeutic use; D025721:WT1 Proteins / Q000235:genetics*
chemical_list: D013256:Steroids; D025721:WT1 Proteins