Homozygous Pathogenic Variant in BBS9 Gene: A Detailed Case Study of Bardet-Biedl Syndrome.
Cureus
; 16(7): e65774, 2024 Jul.
Article
en En
| MEDLINE
| ID: mdl-39211725
ABSTRACT
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
Cureus
Año:
2024
Tipo del documento:
Article