A novel disease-causing mutation in the Renin gene in a Tunisian family with autosomal dominant tubulointerstitial kidney disease.
Authors of this article are:
Abdelwahed M, Chaabouni Y, Michel-Calemard L, Chaabouni K, Morel Y, Hachicha J, Makni FA, Kamoun H, Ammar-Keskes L, Belghith N.
A summary of the article is shown below:
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare group of disease that affect the tubules of the kidney. There are 4 known subtypes of ADTKD classified based on causative genes and clinical features. In our study, we aimed to identify the causative subtypes of ADTKD in a Tunisian ADTKD family (3 affected members), in whom standard nephrological diagnosis did not provide clear subtype of ADTKD, until genetic testing was performed. Sanger sequencing was performed for UMOD, HNF1β and REN genes. Mutational analysis allowed us to detect a heterozygous mutation in the REN gene: c.1172C > G, (p.T391R) in exon 10. In silico analyses predicted that the novel likely pathogenic mutation affect protein stability and 3D structure. Our study highlights the importance of establishing a genetic diagnosis to identify the subtype of ADTKD for better patient care. To the best of our knowledge, we report here a first Tunisian ADTKD-REN family.Copyright © 2019 Elsevier Ltd. All rights reserved.
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This article is a good source of information and a good way to become familiar with topics such as: Autosomal dominant tubulointerstitial kidney disease (ADTKD); Biochemical assay; In silico analyses; Novel mutation; REN gene.
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