Orthopaedic aspects in seventy-two children affected by Marfan syndrome. Correlations between pathological features and fibrillin-1 gene mutations

F.De Maio, C. Pisano, A. Caterini, K. Efremov, G. Ruvolo, P. Farsetti

Article ID: 5586
Vol 34, Issue 5S1, 2020
DOI: https://doi.org/10.54517/jbrha5586
Received: 8 November 2020; Accepted: 8 November 2020; Available online: 8 November 2020; Issue release: 8 November 2020

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


Keywords

Marfan syndrome;FBN1;chest asymmetry


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