Clinical variability in patients with Apert's syndrome

Area of Science:

• Genetics
• Molecular Biology
• Medical Genetics

Background:

• Apert syndrome involves craniosynostosis and severe limb syndactyly.
• The condition is linked to specific mutations in the fibroblast growth factor receptor 2 (FGFR2) gene.

Purpose of the Study:

• To investigate genotype-phenotype correlations in Apert syndrome patients.
• To identify specific FGFR2 mutations associated with clinical manifestations.

Main Methods:

• Screened 36 Apert syndrome patients for genetic mutations in FGFR2.
• Conducted a phenotypical survey to document clinical variability.
• Identified mutations in all patients, including a rare S252F substitution.

Main Results:

• Mutations were found in all 36 patients.
• Clinical variability was observed, with some patients lacking craniosynostosis.
• A P253R mutation correlated with more severe syndactyly and mental outcomes.

Conclusions:

• FGFR2 mutations are consistently found in Apert syndrome.
• Specific mutations, particularly P253R, are associated with disease severity.
• Identifying mutations in FGFR2 exon IIIa aids diagnosis and genetic counseling.