Marfan syndrome is an inherited connective-tissue disorder transmitted as an
autosomal dominant trait.
Marfan syndrome is caused by mutations in FBN1 gene located on chromosome 15q21.1 and, occasionally, by mutation in TGFβR1 or TGFβR2 gene located on chromosome 9 and on chromosome 3p24.2-p25.
Marfan syndrome is known as an autosomal dominant connective tissue disorder.
However, recently a family was reported to have homozygosity for a FBN1 missense mutation and molecular evidence for recessive Marfan syndrome. This obviously has implications for genetic counseling and for molecular diagnosis.
(Marfan Syndrome, 1996-2013)
autosomal dominant trait.
Marfan syndrome is caused by mutations in FBN1 gene located on chromosome 15q21.1 and, occasionally, by mutation in TGFβR1 or TGFβR2 gene located on chromosome 9 and on chromosome 3p24.2-p25.
- Different genotypes and phenotypes of Marfan syndrome have been reported increasing the number of unique mutations.
- Mutations in the FBN1 gene have also been found in patients with other fibrillinopathies.
- Identifying a given mutation is currently of limited value in establishing a phenotype or providing a prognosis.
Marfan syndrome is known as an autosomal dominant connective tissue disorder.
However, recently a family was reported to have homozygosity for a FBN1 missense mutation and molecular evidence for recessive Marfan syndrome. This obviously has implications for genetic counseling and for molecular diagnosis.
(Marfan Syndrome, 1996-2013)