Article
Clinical and Genetic Characterization of a Russian Family with Bardet-Biedl Syndrome Carrying a Previously Undescribed Missense Variant and a Recurrent Pathogenic Frameshift Variant in BBS7 Gene.
Genes - 29 May 2026
Nikolaeva Alexandra F, Boyko Timur V, Kadyshev Vitaly V, Shestopalova Elena A, Kuznetsova Svetlana V, Panchenko Elizabeth G, Tiulpakov Anatoly N, Ryzhkova Oxana P, Aripova Tamara O, Hegay Tatyana R, Kutsev Sergey I, Sigin Vladimir O
Abstract excerpt
Background/Objectives: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy caused by variants in genes encoding components of the BBSome complex. Interpretation of rare variants in the BBS7 gene remains challenging, particularly for variants of uncertain significance. This study aimed to provide clinical and molecular genetic characterization of two siblings with a BBS phenotype harboring...
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