A RANGE OF MUTATIONS IN PATIENTS WITH ISOLATED AND SYNDROMAL FORMS OF CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT-Reference-Cited by-同舟云学术

A RANGE OF MUTATIONS IN PATIENTS WITH ISOLATED AND SYNDROMAL FORMS OF CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT

Published:2022-04-08 Issue: Volume:32 Page:44-53
ISSN:1999-9127
Container-title:Молекулярная и прикладная генетика
language:
Short-container-title:Молекулярная и прикладная генетика

Author:

Mazur A. Ch.¹,Mikhalenkа A. P.²,Baiko S. V.³,Malyshava V. M.²,Shauchuk I. V.⁴,Kilchevsky A. V.²,Sukalo А. V.³

Affiliation:

1. Institute of Genetics and Cytology, National Academy of Sciences o Belarus

2. Institute of Genetics and Cytology, National Academy of Sciences of Belarus

3. Belarusian State Medical University

4. 2nd City Children’s Clinical Hospital

Abstract

Based on the results of numerous studies, it was established that the genetic factor makes a significant contribution to the formation of congenital anomalies of the kidney and urinary tract (VAMP). The study of the genome using next generation sequencing (NGS) makes it possible to establish the genetic nature of VAMP and simultaneously analyze structural disorders of a significant number of genes in one patient. Whole-exome sequencing was performed in 69 children with VAMP and a bioinformatic analysis of 101 genes associated with this pathology was carried out. Known gene mutations were found in five (26.3%) patients with syndromic and four (8%) with isolated VAMP. Variants of nucleotide sequences that were not previously found in the population, as well as variants with an undetermined value, which require further analysis, were determined.

Publisher

National Academy of Sciences of Belarus

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