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Thanatophoric dysplasia type I with syndactyly
S G Brodie1, H Kitoh, M Lipson
1Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, UCLA School of Medicine, Los Angeles, California, USA.
American Journal of Medical Genetics
|December 8, 1998
Summary
Thanatophoric dysplasia type 1 (TD1), a skeletal disorder, can result from FGFR3 gene mutations. This case also shows syndactyly, a previously undescribed feature in TD, suggesting broader developmental effects.
Area of Science:
- Genetics
- Developmental Biology
- Orthopedics
Background:
- Thanatophoric dysplasia type 1 (TD1) is a severe skeletal disorder.
- Fibroblast growth factor receptor 3 (FGFR3) gene mutations are implicated in TD1.
- Syndactyly, the fusion of digits, is a known feature of some craniosynostosis syndromes linked to FGFR2 mutations.
Observation:
- A case of TD1 was identified with a specific mutation (Tyr373Cys) in the FGFR3 gene.
- This patient also exhibited soft tissue syndactyly of the fingers and toes.
Findings:
- The Tyr373Cys mutation in FGFR3 was associated with TD1.
- Syndactyly was observed in conjunction with the FGFR3 mutation, a finding not previously reported in TD or other FGFR3-related conditions.
Implications:
- Mutations in FGFR3 may lead to developmental abnormalities beyond skeletal dysplasia.
- Interference with programmed cell death (apoptosis) is a potential mechanism for these broader developmental effects.
- This expands the known phenotype associated with FGFR3 mutations, linking them to conditions previously associated with FGFR2.