Orthopaedic aspects in seventy-two children affected by Marfan syndrome. Correlations between pathological features and fibrillin-1 gene mutations
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Published on: December 16, 2021
F De Maio1, C Pisano2, A Caterini1
1Department of Orthopaedic Surgery, University of Rome "Tor Vergata", Italy.
Insights
This study links specific fibrillin-1 gene mutations to musculoskeletal features in Marfan syndrome patients. While chest asymmetry correlates with splice mutations and scoliosis with stop mutations, a clear genotype-phenotype prognosis correlation was not found.
Area of Science:
- Genetics
- Pediatrics
- Rheumatology
Background:
- Marfan syndrome is an inherited connective tissue disorder.
- It is caused by mutations in the fibrillin-1 gene (FBN1).
- Primary systems affected include cardiovascular, skeletal, and ocular.
Purpose of the Study:
- To investigate correlations between musculoskeletal features and FBN1 gene mutations in pediatric Marfan syndrome.
- To identify potential genotype-phenotype correlations for disease prognosis.
Main Methods:
- Studied 72 children diagnosed with Marfan syndrome.
- Analyzed FBN1 gene mutations: missense, stop, splice, and others.
- Assessed musculoskeletal features like chest asymmetry, scoliosis, and kyphosis.
Main Results:
- A significant association was found between chest asymmetry and splice mutations (p=0.031).
- Scoliosis (>20°) or thoracolumbar kyphosis showed a significant association with stop mutations (p=0.039).
- No definitive genotype-phenotype correlation was established for disease prognosis.
Conclusions:
- Specific FBN1 mutations are associated with particular skeletal manifestations in Marfan syndrome.
- Further research is needed to establish robust genotype-phenotype correlations for prognostic markers.
- Identifying these correlations can aid in personalized clinical management of Marfan syndrome.
Abstract:
Marfan syndrome is an autosomal dominant disorder of the connective tissue caused by mutations of the fibrillin-1 gene (FBN1) that primarly involves the cardiovascular, skeletal and ocular systems. We investigated 72 children affected by Marfan syndrome in order to identify possible correlations between some musculoskeletal features and specific mutations of fibrillin-1 gene. The following FBN-1 gene mutations have been observed: a missense mutation in 21 children, a stop mutation in 9, a splice mutation in 15 and other mutations in the remaining 27 patients. We observed a statistical significant association between chest asymmetry and splice mutation (p=0.031) and between scoliosis >20° or thoracolumbar kyphosis and stop mutation (p=0.039). However, we did not find a true genotype-phenotype correlation between the fibrillin-1 gene mutations observed and the prognosis of the disease. Future studies are necessary to demonstrate further genotype-phenotype correlations in order to identify early prognostic markers of Marfan syndrome and to plan the most appropriate clinical management accordingly.
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