Abstract: Objective To enhance the understanding of the clinical features and the genetic features of Bardet-Biedl syndrome. Method The clinical and laboratory data and gene detection results from one child with Bardet-Biedl syndrome were retrospectively analyzed. The related literatures were reviewed. Results Thirteen years old boy, clinically manifested polydactylism, retinitis pigmentosa, gonadal dysgenesis, obesity, mental retardation, cystic renal dysplasia, chronic renal insufficiency, impaired glucose tolerance, hypospadias, fatty liver, anemia, and short stature. High-throughput sequencing showed a homozygosis of c.1148_1149dupTC, p.His384Serfs*34 in BBS2 gene, and the locus was heterozygote in both of his parents. Conclusion The molecular diagnosis by high-throughput sequencing is helpful in the diagnosis of Bardet-Biedl syndrome. The BBS2 gene variation has not been reported in the database of HGMD, ExAC, or ClinVar, and it is the new discover at home and abroad.