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Marfan syndrome

From SNPedia

Marfan syndrome (also called Marfan's syndrome) is a genetic disorder primarily caused by mutations in the FBN1 fibrillin-1 gene.Wikipedia

Marfan syndrome is typically an autosomal dominant disorder, meaning that people who inherit only one copy of the Marfan FBN1 gene from either parent will develop Marfan syndrome and transmit it to their children. There is at least one example, however, of a recessively inherited mutation leading to Marfan syndrome (rs147195031).

Marfan syndrome has various expressions ranging from mild to severe: the most serious complications are defects of the heart valves and aorta. Additionally, it may affect the lungs, eyes, dural sac surrounding the spinal cord, the skeleton, and the hard palate. People with Marfan tend to be unusually tall, with long limbs and long, thin fingers.

Some of 1,000+ mutations associated with Marfan Syndrome include:

Rs113871094 Apr 2, 2014 - PMID 11933199 Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel ...

Rs137854468 - SNPedia Jan 9, 2014 - PMID 9236141 A major involvement of the cardiovascular system in patients affected by Marfan syndrome: novel mutations in fibrillin 1 gene.

Rs137854466 Apr 2, 2014 - PMID 8541880 Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. PMID 8791520 Fibrillln ...

Rs193922239 ... A compound-heterozygous Marfan patient: two defective fibrillin ... The molecular genetics of Marfan syndrome and related ...

Rs193922224 Apr 2, 2014 - PMID 7977366 A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.

Rs111671429 Apr 2, 2014 - PMID 1469554 Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. PMID 16342915 ...

Rs137854462 Sep 8, 2013 - A potential disease-causing mechanism in Marfan syndrome. ... PMID 11706995 The molecular pathogenesis of the Marfan syndrome.