About Marfan Syndrome - National Human Genome Research …
2017年5月30日 · The FBN1 gene is the gene associated with the true Marfan syndrome. Genetic testing of the FBN1 gene identifies 70 - 93 percent of the mutations and is available in clinical laboratories.
Marfan syndrome: MedlinePlus Genetics
Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Explore symptoms, inheritance, genetics of this condition. Marfan syndrome: MedlinePlus Genetics
Marfan syndrome - Symptoms and causes - Mayo Clinic
2024年3月22日 · Marfan syndrome is caused by a defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength. Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder.
Marfan Syndrome - StatPearls - NCBI Bookshelf
2023年1月23日 · One of the most common inherited disorders affecting connective tissue, Marfan syndrome (MFS), is an autosomal dominant condition with a reported incidence of 1 in 3000 to 5000 individuals. The defect is in the FBN1 gene of chromosome 15, which produces fibrillin, a connective tissue protein.
Marfan syndrome - Wikipedia
Marfan syndrome is caused by mutations in the FBN1 gene on chromosome 15, [33] which encodes fibrillin 1, a glycoprotein component of the extracellular matrix. Fibrillin-1 is essential for the proper formation of the extracellular matrix, including the …
Marfan Syndrome - University of Utah
The affected gene in Marfan syndrome is FBN1, on chromosome 15. It codes for a large protein called fibrillin-1. People with Marfan syndrome have one non-working copy (allele) of FBN1 and one healthy copy. They make a mix of healthy and non-working protein.
FBN1-Related Marfan Syndrome - GeneReviews® - NCBI Bookshelf
2001年4月18日 · When the clinical findings suggest the diagnosis of Marfan syndrome, molecular genetic testing approaches can include single-gene testing or use of a multigene panel:
Marfan syndrome: an update of genetics, medical and surgical …
Marfan syndrome is a heritable disorder of the connective tissue with an estimated prevalence of 1 in 5000 individuals and no predilection for either sex. The syndrome is inherited as an autosomal dominant trait with complete penetrance but with phenotypic expression that varies considerably, both between and within families.
Marfan Syndrome - Marfan Foundation
About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. But some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation.
What is Marfan Syndrome? Symptoms & Causes | NIAMS
People with Marfan syndrome generally inherit one normal copy of the FBN1 gene from one parent and one abnormal copy of from the other parent. One abnormal copy of the FBN1 gene is sufficient to cause Marfan syndrome, meaning that an affected child would inherit the condition from an affected parent.
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