mutation of nphs1 gene in a chinese child with congenital nephrotic syndrome

Clicks: 221
ID: 183731
2015
Free PDF
Article Quality & Performance Metrics
Overall Quality
Not rated
Combines reader engagement with the AI quality analysis. This article has not been analysed, so there is no overall score — reader engagement is measured and shown alongside.
AI Quality Assessment
Not analyzed
Readership in this journal
Steady

Ranked #83 of 124 articles by views in frontiers in neurorobotics

Most read Least read

Bar heights use a square-root scale. Only the 120 most-read articles are drawn; the journal has 124 in total.

Mint this article as an NFT
Not yet minted

Create a permanent, verifiable on-chain record of this article on the Scimatic Network. The NFT is held in your Journament account, and you can withdraw it to your own wallet at any time.

5 SUSD one-off · no wallet required
Sign in to mint
Abstract
Objective　To analyze the mutations and characteristics of NPHS1 and NPHS2 genes in a child with congenital nephrotic syndrome (CNS). Methods　Mutation analysis was made for all exons and exon/intron boundaries of NPHS1 and NPHS2 genes in a child and his parents as well as 50 unrelated adults with normal urine test results as control using PCR and direct sequencing techniques. Results　No mutation of NPHS2 gene was detected, while a novel splice site mutation of IVS11+1G>A within intron 11 and a missense mutation within exon 8 (c.928G>A) in NPHS1 gene were detected in the child with CNS. Urinalysis was normal in child's mother, and it was found that c.928G>A (D310N) but no IVS11+1G>A heterozygous mutation, and his father was shown to have a normal urinalysis results, and the result of gene examination was IVS11+1G>A, but without c.928G>A (D310N) heterozygous mutation. All these IVS11+1 G>A and c.928G>A (D310N) mutations were not found in the 50 unrelated controls. Conclusions　Two heterozygote mutations IVS11+1 G>A and c.928G>A in the NPHS1 gene have been identified in a child with CNS in the central region of China. The splice site mutation of IVS11+1 G>A is an novel genetic defect of CNS. It is necessary to look for mutations in NPHS1 gene in the children with CNS. DOI: 10.11855/j.issn.0577-7402.2015.07.13
Reference Key
fu2015medicalmutation Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Rong FU;Qing-yan WU;Ji-xiang XU;Meng-fan GOU;Juan LIU;Shao-feng TONG;Xue-jie LIU;Hui GUO;Jun-jie HE
Journal frontiers in neurorobotics
Year 2015
DOI
DOI not found
URL
http://www.plamj.org/index.php/plamj/article/view/1178
Keywords
nephrotic syndrome mutationmedicinemedicine (general)

Citations

No citations found. To add a citation, contact the admin at info@scimatic.org

Comments

No comments yet. Be the first to comment on this article.