Nf1 Research Papers
Lauryn wagner Bio extra credit
Neurofibromatosis type one is a genetic disorder the causes noncancerous (benign) tumors as well as skin pigments called cafe-au-lait spots .NF1 is caused by mutations in a gene called NF1, which can be found on chromosome 17. This gene regulates the production of a protein known as neurofibromin, which is thought to function as a tumor suppressor.In about half of individuals with NF1 the disorder results in spontaneous mutation of the gene that occur for unknown reasons. In others, NF1 is inherited as dominant trait..The first sign of NF1 is the appearance of multiple brown spots on the skin called café-au-lait spots.(because is looks just like coffee with milk!! Maybe this is why i love it so much) Cafe-au-lait spots cause freckling …show more content…
Gold to brown in color, they may grow up to 2 mm on the same iris. The presence of Lisch nodules are the most common sign of NF1.and unlike most things in NF they are pretty and most of the time harmless. 15% of people with NF develop brain tumors or gliomas, which develop during early childhood. These develop on the nerves of the eye these are called optic gliomas, and affect vision or can lead to blindness. a variety of other tumors may develop in people with NF1. In women with NF1, there is a increased risk of developing breast cancer. Orthopedic (bone) problems may develop with NF1, including bending of the spine called scoliosis and abnormal healing and bowing of leg bones (bowed legs).Disorders of bone density are more common in people with NF1 than in the general population this has been associated with decreased vitamin D levels, People with NF1 tend to be short , below average in muscle strength, and large head size for age.High blood pressure is seen more frequently in the NF1 population than the general population.NF is a rare disorder(but is a dominate trait) that affects all equally NF affects all races, ethnic groups it occurs in 1 in 3,000
Neurofibromatosis type one is a genetic disorder the causes noncancerous (benign) tumors as well as skin pigments called cafe-au-lait spots .NF1 is caused by mutations in a gene called NF1, which can be found on chromosome 17. This gene regulates the production of a protein known as neurofibromin, which is thought to function as a tumor suppressor.In about half of individuals with NF1 the disorder results in spontaneous mutation of the gene that occur for unknown reasons. In others, NF1 is inherited as dominant trait..The first sign of NF1 is the appearance of multiple brown spots on the skin called café-au-lait spots.(because is looks just like coffee with milk!! Maybe this is why i love it so much) Cafe-au-lait spots cause freckling …show more content…
Gold to brown in color, they may grow up to 2 mm on the same iris. The presence of Lisch nodules are the most common sign of NF1.and unlike most things in NF they are pretty and most of the time harmless. 15% of people with NF develop brain tumors or gliomas, which develop during early childhood. These develop on the nerves of the eye these are called optic gliomas, and affect vision or can lead to blindness. a variety of other tumors may develop in people with NF1. In women with NF1, there is a increased risk of developing breast cancer. Orthopedic (bone) problems may develop with NF1, including bending of the spine called scoliosis and abnormal healing and bowing of leg bones (bowed legs).Disorders of bone density are more common in people with NF1 than in the general population this has been associated with decreased vitamin D levels, People with NF1 tend to be short , below average in muscle strength, and large head size for age.High blood pressure is seen more frequently in the NF1 population than the general population.NF is a rare disorder(but is a dominate trait) that affects all equally NF affects all races, ethnic groups it occurs in 1 in 3,000