Genetic Landscape of Nephropathic Cystinosis in Russian Children.

Autor:	Savostyanov KV; National Medical Research Center for Children's Health Federal State Autonomous Institution of the Ministry of Health of the Russian Federation, Moscow, Russia., Pushkov AA; National Medical Research Center for Children's Health Federal State Autonomous Institution of the Ministry of Health of the Russian Federation, Moscow, Russia., Shchagina OA; Research Centre for Medical Genetics, Moscow, Russia., Maltseva VV; National Medical Research Center for Children's Health Federal State Autonomous Institution of the Ministry of Health of the Russian Federation, Moscow, Russia., Suleymanov EA; Ministry of Public Health, Republic of Chechnya, Grozny, Russia., Zhanin IS; National Medical Research Center for Children's Health Federal State Autonomous Institution of the Ministry of Health of the Russian Federation, Moscow, Russia., Mazanova NN; National Medical Research Center for Children's Health Federal State Autonomous Institution of the Ministry of Health of the Russian Federation, Moscow, Russia., Fisenko AP; National Medical Research Center for Children's Health Federal State Autonomous Institution of the Ministry of Health of the Russian Federation, Moscow, Russia., Mishakova PS; Research Centre for Medical Genetics, Moscow, Russia., Polyakov AV; Research Centre for Medical Genetics, Moscow, Russia., Balanovska EV; Research Centre for Medical Genetics, Moscow, Russia., Zinchenko RA; Research Centre for Medical Genetics, Moscow, Russia., Tsygin AN; National Medical Research Center for Children's Health Federal State Autonomous Institution of the Ministry of Health of the Russian Federation, Moscow, Russia.
Jazyk:	angličtina
Zdroj:	Frontiers in genetics [Front Genet] 2022 Apr 28; Vol. 13, pp. 863157. Date of Electronic Publication: 2022 Apr 28 (Print Publication: 2022).
DOI:	10.3389/fgene.2022.863157
Abstrakt:	Nephropathic cystinosis is a rare autosomal recessive disorder characterized by amino acid cystine accumulation and caused by biallelic mutations in the CTNS gene. The analysis methods are as follows: tandem mass spectrometry to determine the cystine concentration in polymorphonuclear blood leukocytes, Sanger sequencing for the entire coding sequence and flanking intron regions of the CTNS gene, multiplex PCR to detect a common mutation-a 57 kb deletion, and multiplex ligation-dependent probe amplification to analyze the number of exon copies in the CTNS gene. Haplotype analysis of chromosomes with major mutations was carried out using microsatellite markers D17S831, D17S1798, D17S829, D17S1828, and D17S1876. In this study, we provide clinical, biochemical, and molecular genetic characteristics of 40 Russian patients with mutations in the CTNS gene, among whom 30 patients were selected from a high-risk group of 85 people as a result of selective screening, which was carried out through cystine concentration measurement in polymorphonuclear blood leukocytes. The most common pathogenic variant, as in most described studies to date, was the 57 kb deletion, which represented 25% of all affected alleles. Previously non-described variants represented 22.5% of alleles. The founder effect in the Karachay and Chechen ethnic groups was shown for the following major variants: c.1015G > A and c.518A > G. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2022 Savostyanov, Pushkov, Shchagina, Maltseva, Suleymanov, Zhanin, Mazanova, Fisenko, Mishakova, Polyakov, Balanovska, Zinchenko and Tsygin.)
Databáze:	MEDLINE
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