ArticleMolecular genetics and metabolism reports2026
A comprehensive overview of genetic mutations in Iranian patients with Bardet-Biedl syndrome.
Article in Molecular genetics and metabolism reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy characterized by pleiotropic clinical manifestations including retinal degeneration, obesity, polydactyly, intellectual disability, renal abnormalities, and hypogenitalism. Significant genetic heterogeneity exists, with over 20 genes implicated in its pathogenesis. This study provides a comprehensive overview of the genetic mutations identified in a cohort of Iranian patients with BBS. Methods: A total of 26 unrelated Iranian patients clinically suspected of BBS were enrolled. Whole-exome sequencing (WES) was performed on an Illumina HiSeq4000 platform. Results: Causative or potentially causative variants were identified in all 26 probands across 13 distinct genes. The most frequently mutated gene was Conclusion: This study expands the mutational spectrum of BBS in the Iranian population, highlighting the predominance of
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