Molecular genetic diagnostics of Bardet-Biedl syndrome with an MPS-panel
https://doi.org/10.25557/2073-7998.2021.03.26-35
Abstract
Bardet-Biedl syndrome is an autosomal recessive disorder characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney defects. This study shows the results of using an MPS panel that includes coding sequences and intronic areas of 21 genes associated with Bardet-Biedl syndrome. For the first time molecular genetic testing has been provided for the group of 40 Russian patiens with Bardet-Biedl syndrome from unrelated families. As a result of the testing, diagnoses were confirmed for 40% of the patients (n=16). The genes BBS1, BBS7, BBS10 had recurrent variants. The frequency of pathogenic and likely pathogenic variants in the genes BBS1 and BBS10 among Russian patients matches the research data in other countries. Variants in the BBS7 gene were found for five people, four of them had a pathogenic variant c.1967_1968delTAinsC, which is not present among other populations. Results provided in this article show the significant role of pathogenic variants in the BBS7 gene in patients with Bardet-Biedl syndrome in Russian population.
About the Authors
M. D. Orlova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
P. . Gundorova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
A. V. Poliakov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
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Review
For citations:
Orlova M.D., Gundorova P., Poliakov A.V. Molecular genetic diagnostics of Bardet-Biedl syndrome with an MPS-panel. Medical Genetics. 2021;20(3):26-35. (In Russ.) https://doi.org/10.25557/2073-7998.2021.03.26-35
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