Mutations in the human extracellular matrix protein fibrillin-1 (FBN1) lead to Marfan syndrome and several other disorders of connective tissue and skin; Both Marfan and Weill-Marchesani syndromes are characterized by abnormalities in connective tissue leading to heart, eye and skeletal abnormalities; FBN1 gene mutations also cause acromicric dysplasia characterized by severely short stature, short limbs and stiff joints; FBN1 gene mutations also cause MASS syndrome, involving abnormalities of the mitral heart valve, aorta, skeleton and skin; FBN1 gene mutations may also be involved in Shprintzen-Goldberg syndrome in infants which involves premature fusion of certain bones of the skull, and skeletal and skin abnormalities; in elegans mutations in fbn-1/fibrillin1 cause defects in molting.
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.