Bardet-Biedl syndrome is a rare condition characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney anomalies. This syndrome has an autosomal recessive type Show more
Bardet-Biedl syndrome is a rare condition characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney anomalies. This syndrome has an autosomal recessive type of inheritance. For the first time, molecular genetic testing has been provided for a large cohort of Russian patients with Bardet-Biedl syndrome. Genetic testing was provided to 61 unrelated patients using an MPS panel that includes coding regions and intronic areas of all genes ( The diagnosis was confirmed for 41% of the patients ( The frequency of pathogenic and likely pathogenic variants in the Show less