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ORIGINAL RESEARCH article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1419025

Spectrum of pathogenic variants and high prevalence of BBS7 pathogenic variants in Russian patients with Bardet-Biedl syndrome

Provisionally accepted
Maria Orlova Maria Orlova 1*Polina Gundorova Polina Gundorova 2Varvara Kadnikova Varvara Kadnikova 1Alexander Poliakov Alexander Poliakov 1
  • 1 Research Centre for Medical Genetics, Moscow, Russia
  • 2 University Medical Center Hamburg-Eppendorf, Hamburg, Hamburg, Germany

The final, formatted version of the article will be published soon.

    Introduction: Bardet-Biedl syndrome is a rare condition characterized by obesity, retinitis pigmentosa, polydactyly, development delay and structural kidney anomalies. This syndrome has autosomal recessive type of inheritance. For the first time molecular genetic testing has been provided for the large cohort of Russian patients with Bardet-Biedl syndrome.Materials and methods: Genetic testing was provided to 61 unrelated patients using an MPS panel that includes coding regions and intronic areas of all genes (n=21) associated with Bardet-Biedl syndrome as of today.Results: The diagnosis was confirmed for 41% of the patients (n=25). Disease-causing variants were observed in BBS1, BBS4, BBS7, TTC8, BBS9, BBS10, BBS12 and MKKS genes. In most cases pathogenic and likely pathogenic variants were localized in BBS1, BBS10 and BBS7 genes, also in these genes recurrent variants were observed.Discussion: The frequency of pathogenic and likely pathogenic variants in the genes BBS1 and BBS10 among Russian patients matches the research data in other countries. Frequency of pathogenic variants in BBS7 gene is about 1.5-2% patients with Bardet-Biedl syndrome, while in cohort of Russian patients the part is 24%. Also, in BBS7 gene recurrent pathogenic variant c.1967_1968delinsC was detected. The higher frequency of this variant in Russian population, as well as the lack of association of this pathogenic variant with Bardet-Biedl syndrome in other populations suggests that the variant c.1967_1968delinsC in the BBS7 gene is major and has a founder effect in Russian population.Results provided in this article show the significant role of pathogenic variants in the BBS7 gene for patients with Bardet-Biedl syndrome in Russian population.

    Keywords: Bardet-Biedl Syndrome, ciliopathies, BBSome, BBS genes, Rare Diseases

    Received: 17 Apr 2024; Accepted: 05 Jun 2024.

    Copyright: © 2024 Orlova, Gundorova, Kadnikova and Poliakov. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Maria Orlova, Research Centre for Medical Genetics, Moscow, Russia

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.