Six Exonic Variants in the
SLC5A2 gene
exon skipping
exonic variant
minigene analysis
missense variant
pre-mRNA splicing
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2020
2020
Historique:
received:
19
07
2020
accepted:
20
10
2020
entrez:
30
11
2020
pubmed:
1
12
2020
medline:
1
12
2020
Statut:
epublish
Résumé
Familial renal glucosuria is a rare renal tubular disorder caused by We used bioinformatics programs to analyze 77 previously described presumed Our study indicated six of 7 candidate variants induced splicing alterations. Variants c.216C > A, c.294C > A, c.886G > C, c.932A > G and c.962A > G may disrupt splicing enhancer motifs and generate splicing silencer sequences resulting in the skipping of exon 3. Variants c.305C > T and c.1129G > A probably disturb splice sites leading to exon skipping. To our knowledge, we report, for the first time,
Sections du résumé
BACKGROUND
BACKGROUND
Familial renal glucosuria is a rare renal tubular disorder caused by
METHODS
METHODS
We used bioinformatics programs to analyze 77 previously described presumed
RESULTS
RESULTS
Our study indicated six of 7 candidate variants induced splicing alterations. Variants c.216C > A, c.294C > A, c.886G > C, c.932A > G and c.962A > G may disrupt splicing enhancer motifs and generate splicing silencer sequences resulting in the skipping of exon 3. Variants c.305C > T and c.1129G > A probably disturb splice sites leading to exon skipping.
CONCLUSION
CONCLUSIONS
To our knowledge, we report, for the first time,
Identifiants
pubmed: 33250922
doi: 10.3389/fgene.2020.585064
pmc: PMC7674938
doi:
Types de publication
Journal Article
Langues
eng
Pagination
585064Informations de copyright
Copyright © 2020 Wang, Wang, Wang, Liu, Zhang, Shi, Han, Guo, Bottillo and Shao.
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