Homozygous Pathogenic Variant in BBS9 Gene: A Detailed Case Study of Bardet-Biedl Syndrome.
PMID 39211725 | PMCID PMC11361615 | DOI 10.7759/cureus.65774 · Cureus · 2024 · View on PubMed ↗
In this case study, we describe an eight-year-old Saudi girl diagnosed with Bardet-Biedl syndrome (BBS), characterized by a rare homozygous mutation in the BBS9 gene. She presented with typical symptoms including obesity, polydactyly, developmental delays, and cognitive difficulties. This case underscores the genetic heterogeneity of BBS and demonstrates the crucial role of comprehensive genetic testing in identifying this complex ciliopathy. It highlights the need for a multidisciplinary strategy to manage the diverse manifestations of BBS, which includes surgical correction of polydactyly and customized educational support. Additionally, we explore the therapeutic possibilities of setmelanotide, an emerging treatment for obesity associated with BBS, highlighting advancements in treatment approaches for genetic disorders. This report adds to the existing knowledge of the genetic variability of BBS and emphasizes the role of personalized medicine in mitigating its extensive clinical effects.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BBS9 | “Homozygous Pathogenic Variant in BBS9 Gene: A Detailed Case Study of Bardet-Biedl Syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | Bardet-Biedl syndrome | “Homozygous Pathogenic Variant in BBS9 Gene: A Detailed Case Study of Bardet-Biedl Syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | obesity | “She presented with typical symptoms including obesity, polydactyly, developmental delays, and cognitive difficulties.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “In this case study, we describe an eight-year-old Saudi girl diagnosed with Bardet-Biedl syndrome (BBS), characterized by a rare homozygous mutation in the BBS9 gene.” | 0.95 | saudi_context_rules_v1 |