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Tibial hemimelia associated with GLI3 truncation
Steven Deimling1, Chris Sotiropoulos1, Kimberly Lau1
1Program in Developmental and Stem Cell Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.
Journal of Human Genetics
|January 22, 2016
Summary
Tibial hemimelia, a congenital limb deficiency, can result from genetic mutations. A deletion in the GLI3 gene disrupts Sonic hedgehog signaling, causing this rare condition in affected individuals.
Area of Science:
- Genetics
- Developmental Biology
- Molecular Biology
Background:
- Tibial hemimelia is a rare congenital limb malformation.
- Mutations in Sonic hedgehog (SHH) pathway enhancers are implicated in syndromic cases.
Observation:
- Two patients with bilateral tibial hemimelia presented with a novel genetic finding.
- A significant deletion (~5kb) was identified within the GLI3 gene, a repressor of SHH signaling.
Findings:
- The GLI3 deletion resulted in a truncated protein lacking a DNA-binding domain.
- This truncated GLI3 protein was unable to repress hedgehog signaling effectively.
Implications:
- This discovery highlights the critical role of GLI3 in regulating limb development.
- It reinforces the understanding that tibial hemimelia stems from dysregulated SHH activity during limb bud formation.
