Key result
Fibrillin-1 (FBN1) mutations cause Marfan syndrome and related connective tissue disorders, spreading throughout the gene with no obvious clustering or phenotypic association except in neonatal cases.
This review highlights that FBN1 mutations cause a spectrum of connective tissue disorders, including Marfan syndrome, with mutations spread throughout the gene lacking clear genotype-phenotype correlations except in neonatal cases.
Supports broad FBN1 sequencing in suspected fibrillinopathies; leaves open refined genotype-phenotype correlations beyond neonatal cases.
Fibrillin is the major component of extracellular microfibrils and is widely distributed in connective tissue throughout the body. Mutations in the fibrillin-1 (FBN1) gene, on chromosome 15q21.1, have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically variable skeletal, ocular, and cardiovascular abnormalities. Fibrillin-1 mutations have also been found in several other related connective tissue disorders, such as severe neonatal Marfan syndrome, dominant ectopia lentis, familial ascending aortic aneurysm, isolated skeletal features of Marfan syndrome, and Shprintzen-Goldberg syndrome. Mutations are spread throughout the gene and, with the exception of neonatal Marfan syndrome, show no obvious clustering or phenotypic association.
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Hayward et al. (1997) conducted a review in Marfan syndrome and other type-1 fibrillinopathies. Fibrillin-1 (FBN1) mutations was evaluated. Fibrillin-1 (FBN1) mutations cause Marfan syndrome and related connective tissue disorders, spreading throughout the gene with no obvious clustering or phenotypic association except in neonatal cases.
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