Related Experiment Videos
Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children
1Department of Plastic and Reconstructive Surgery, Tokyo Metropolitan Police Hospital, Japan.
Insights
This study identified specific fibroblast growth factor receptor 2 (FGFR2) gene mutations in Japanese patients with syndromic craniosynostosis. These FGFR2 mutations are linked to craniofacial development abnormalities in Apert's, Crouzon's, and Pfeiffer syndromes.
Area of Science:
- Genetics
- Developmental Biology
- Medical Research
Background:
- Syndromic craniosynostosis involves premature fusion of skull sutures, leading to abnormal head shape.
- Fibroblast Growth Factor Receptor 2 (FGFR2) gene mutations are implicated in several craniosynostosis syndromes.
- Understanding specific mutations is crucial for diagnosis and potential therapeutic strategies.
Purpose of the Study:
- To investigate fibroblast growth factor receptor 2 (FGFR2) gene mutations in Japanese patients diagnosed with syndromic craniosynostosis.
- To correlate identified FGFR2 mutations with specific syndromes like Apert's, Crouzon's, and Pfeiffer's.
- To discuss the functional impact of these FGFR2 mutations on craniofacial morphogenesis.
Main Methods:
- Genomic DNA extraction from patients with Apert's, Crouzon's, and Pfeiffer's syndromes, and controls.
- Amplification and sequencing of specific mutation sites within the FGFR2 gene.
- Analysis of mutation types and their locations within the FGFR2 gene.
Main Results:
- Identified FGFR2 mutation S252W in an Apert's syndrome patient.
- Detected FGFR2 mutation C342W in a Crouzon's syndrome patient.
- Found FGFR2 mutations T341P, C342S, and D321A in Pfeiffer's syndrome patients.
Conclusions:
- Specific FGFR2 gene mutations are associated with syndromic craniosynostosis in the Japanese population.
- The identified mutations provide insights into the molecular mechanisms underlying craniofacial development.
- Further research into FGF signaling pathways and FGFR2 mutation effects is warranted.
Abstract:
We examined the gene mutations of fibroblast growth factor receptor 2 (FGFR2) in Japanese syndromic craniosynostotic patients. Subjects included 1 patient with Apert's syndrome, 1 patient with Crouzon's syndrome, and 3 patients with Pfeiffer's syndrome, as well as two control patients. The genomic deoxyribonucleic acid of each patient was extracted, and the mutation sites of the FGFR2 gene were amplified and sequenced. One patient with Apert's syndrome showed a FGFR2 mutation of S252W (TCG-->TGG), 1 patient with Crouzon's syndrome had a mutation of C342W (TGC-->TGG), and the 3 patients with Pfeiffer's syndrome had mutations of T341P (ACG-->CCG), C342S (TGC-->TCC), and D321A (GAC-->GCC). The role of FGF families and the effect of FGFR2 mutations on craniofacial morphogenesis are discussed.