Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.
Marilyse B L Fernandes1, Luciana P Maximino2, Gimol B Perosa3
1Hospital de Reabilitação de Anomalias Craniofaciais, USP, Bauru, SP, Brazil.
American Journal of Medical Genetics. Part A
|March 31, 2016
Summary
Genetic mutations in Apert and Crouzon syndromes impact brain development and cognitive function. FGFR2 gene variations correlate with varying intelligence quotients and brain abnormalities in affected individuals.
Area of Science:
- Genetics
- Neuroscience
- Developmental Biology
Background:
- Apert syndrome (AS) and Crouzon syndrome (CS) are common craniosynostosis disorders.
- Both syndromes are frequently associated with mutations in the fibroblast growth factor receptor 2 (FGFR2) gene.
- Understanding the molecular basis and its impact on neurodevelopment is crucial.
Purpose of the Study:
- To investigate the molecular biology of FGFR2 mutations.
- To analyze brain abnormalities in patients with AS and CS.
- To assess the cognitive development in relation to genetic findings.
Main Methods:
- Retrospective longitudinal review of 14 patients with AS and CS.
- Cognitive evaluations including Full Scale Intelligence Quotients (FSIQs).
- Cerebral magnetic resonance imaging (MRI) and molecular DNA analyses.
Main Results:
- Apert syndrome patients (8) showed FSIQs from 47 to 108 (mean 76.9), with 5/8 having brain abnormalities.
- FGFR2 gain-of-function mutations (p.Ser252Trp) in AS correlated with lower FSIQs (47-78, mean 67.2).
- Crouzon syndrome patients (6) had FSIQs from 82 to 102 (mean 93.5) with FGFR2 mutations in exons IIIa and IIIc.
Conclusions:
- Molecular aspects of FGFR2 mutations are significant factors in cognitive development for AS and CS.
- Specific FGFR2 mutations may influence the severity of cognitive impairment.
- Further research into genotype-phenotype correlations is warranted.
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