The Orthobullets Podcast Basic Science | Genetic Pearls
Oct 23, 2025
Explore the intriguing world of genetics as the hosts dive into various skeletal dysplasia inheritance patterns. Learn about the roles of specific genes like FGFR3 and COL1A1 in autosomal dominant conditions. The discussion even covers how translocations contribute to sarcomas, highlighting key examples. Find out about tumor suppressor genes like RB1 and p53, and discover how siRNA functions in research. Plus, get insights into how epigenetics plays a role in osteoarthritis. Tune in for genetic nuggets that illuminate complex biological concepts!
AI Snips
Chapters
Transcript
Episode notes
FGF And Collagen Drive Skeletal Dysplasias
- Mutations in fibroblast growth factor receptor genes (FGFR3, FGFR2) inhibit chondrocyte proliferation causing achondroplasia and Apert syndrome.
- Several skeletal dysplasias map to collagen and cartilage genes explaining bone/cartilage developmental defects.
Recessive Disorders Affect Matrix And Bone Integrity
- Autosomal recessive skeletal dysplasias include diastrophic dysplasia and severe osteogenesis imperfecta subtypes linked to collagen gene mutations.
- Defects can involve sulfation of proteoglycans (DTD gene) or frataxin in Friedreich's ataxia affecting musculoskeletal phenotypes.
X-Linked Forms Affect Cartilage And Nerves
- X-linked skeletal dysplasias include spinal epiphyseal dysplasia tarda and some Charcot-Marie-Tooth cases tied to collagen2A1 and kinesin mutations.
- X-linked forms often present with male predominance and nerve or cartilage pathology.