A novel disease-causing mutation in the Renin gene in a Tunisian family with autosomal dominant tubulointerstitial kidney disease

• Published in: The international journal of biochemistry & cell biology Vol. 117; p. 105625
• Main Authors: Abdelwahed, Mayssa, Chaabouni, Yosr, Michel-Calemard, Laurence, Chaabouni, Khansa, Morel, Yves, Hachicha, Jamil, Makni, Fatma Ayedi, Kamoun, Hassen, Ammar-Keskes, Leila, Belghith, Neila
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Ltd 01-12-2019
• Subjects: Autosomal dominant tubulointerstitial kidney disease (ADTKD); Biochemical assay; In silico analyses; Novel mutation; REN gene; Autosomal dominant tubulointerstitial kidney disease (ADTKD); REN gene; Biochemical assay; In silico analyses; Novel mutation
• DOI: 10.1016/j.biocel.2019.105625
• EISSN: 1878-5875
• ISSN: 1357-2725

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.