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Here, we delineate the genetic profile in a cohort of 108 BBS patients from India by targeted gene sequencing\u2010based approach for a panel of ciliopathy (including BBS) and other inherited retinal disease genes. We report here a higher frequency of <jats:italic>BBS10<\/jats:italic> and <jats:italic>BBS1<\/jats:italic> gene variations. A different spectrum of variations including a putatively novel gene <jats:italic>TSPOAP1<\/jats:italic>, for BBS was identified. Increased percentage frequency of digenic variants (36%) in the disease cohort, role of modifiers in familial cases are some of the salient observations in this work. This study appends the knowledge of BBS genetics pertaining to patients from India. We observed a different molecular epidemiology of BBS patients in this study cohort compared to other reports, which emphasizes the need for molecular testing in affected patients.<\/jats:p>","DOI":"10.1111\/cge.14398","type":"journal-article","created":{"date-parts":[[2023,7,11]],"date-time":"2023-07-11T09:59:42Z","timestamp":1689069582000},"page":"443-460","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Mutation profile of <scp>Bardet\u2010Biedl<\/scp> syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern"],"prefix":"10.1111","volume":"104","author":[{"given":"Harshavardhini","family":"Gnanasekaran","sequence":"first","affiliation":[{"name":"SNONGC Department of Genetics and Molecular Biology Vision Research Foundation  Chennai Tamilnadu India"},{"name":"School of Chemical and Biotechnology SASTRA University  Thanjavur Tamilnadu 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