Clinical heterogenity of Russian children with a CRB2 gene defect
https://doi.org/10.25557/2073-7998.2021.12.58-61
Abstract
Nephrotic syndrome (NS) with variants in the CRB2 gene is a rather rare condition, and there are only a few reports of its severe course and no one of mild one. The aim of the communication is to demonstrate the phenotypic features of nephrotic syndrome caused by mutations in the CRB2 gene. On the basis of the nephrological and molecular-genetic departments of the Federal State Autonomous Institution “National Medical Research Center of Children’s Health” we performed retro- and prospective study of the genetic causes of primary steroid-resistant nephrotic syndrome, included 250 children. Among 250 children, only two had causative nucleotide variants in the CRB2 gene (0.8% of all children with steroid-resistant and 1.21% of children with identified genetic causes of SRNS). Children had a different course of the disease and the severity of extrarenal manifestations
About the Authors
A. M. Milovanova
National Medical Research Center of Children’s Health of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
T. V. Vashurina
National Medical Research Center of Children’s Health of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
P. V. Ananin
National Medical Research Center of Children’s Health of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
A. A. Pushkov
National Medical Research Center of Children’s Health of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
A. N. Tsygin
National Medical Research Center of Children’s Health of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
K. V. Savostyanov
National Medical Research Center of Children’s Health of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
A. Yu. Asanov
I. M. Sechenov First Moscow State Medical University
Russian Federation
Russian Federation
References
1. Ebarasi L., Ashraf S., Bierzynska A., Gee H.Y., McCarthy H.J., Lovric S., et al. Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome. Am J Hum Genet. 2015;96(1):153-61.
2. van den Hurk J.A.J.M., Rashbass P., Roepman R., Davis J., Voesenek K.E.J., Arends ML, et al. Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis. Mol Vis. 2005
3. Slavotinek A., Kaylor J., Pierce H., Cahr M., Deward S.J., Schneidman-Duhovny D., et al. CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein. Am J Hum Genet. 2015 DOI: 10.1016/j.ajhg.2014.11.013
4. Lamont R.E., Tan W.-H., Innes A.M., Parboosingh J.S., Schneidman-Duhovny D., Rajkovic A., et al. Expansion of phenotype and genotypic data in CRB2-related syndrome. Eur J Hum Genet. 2016;24(10):1436-44.
5. Milovanova A.M., Pushkov A.A., Savostyanov K. V., Zrobok O.I., Vashurina T.V., Ananin P.V., et al. A study of genetic causes of congenital and infantile nephrotic syndrome in children of Russian Federation. Nephrol Dial. 2020 DOI: 10.28996/2618-9801-2021-1-57-72
6. Рыжкова О.П., Кардымон О.Л., Прохорчук Е.Б. и др. Руководство по интерпретации данных последовательности ДНК человека, полученных методами массового параллельного секвенирования (MPS) (редакция 2018, версия 2). Медицинская генетика. 2019;18(2):3-23. https://doi.org/10.25557/2073-7998.2019.02.3-23
Review
For citations:
Milovanova A.M., Vashurina T.V., Ananin P.V., Pushkov A.A., Tsygin A.N., Savostyanov K.V., Asanov A.Yu. Clinical heterogenity of Russian children with a CRB2 gene defect. Medical Genetics. 2021;20(12):58-61. (In Russ.) https://doi.org/10.25557/2073-7998.2021.12.58-61
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