Bardet−Biedl Syndrome in India: Genotypic Spectrum and Clinical Features From a Single‐Centre Cohort
Authors' conclusion
This study provides descriptive insights into the genotypic spectrum of BBS in an Indian cohort, with frequent involvement of BBS10 and BBS2.
Study context
- Population
- Indian individuals meeting Beales' clinical criteria for Bardet-Biedl syndrome (BBS), undergoing next-generation sequencing9 confirmed BBS
- Participants
- 15 individuals
- Exposure
- Truncating vs non-truncating mutations; chaperonin-like vs BBSome complex genes
- Outcome
- Genotype-phenotype correlations
Methodological detailssingle-centre
- Single-centre
Main finding
As reported in the abstract
Genotypic spectrum and clinical features
Most frequently mutated genes: BBS10 and BBS2 (each)
33.3%
All variants homozygous; truncating mutations
77.8%
Retinal dystrophy and polydactyly (each)
88.9%
Renal abnormalities, observed only with truncating variants
22.2%
Observational data: associations, not effects.
Further findings
Age at diagnosis
Original publication
Bardet−Biedl Syndrome in India: Genotypic Spectrum and Clinical Features From a Single‐Centre Cohort. Clin Endocrinol (Oxf). Published 1 March 2026. doi:10.
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