Download Neurofibromatosis 1 - shsbiogeneticdisorders

By: Jessica Mollman
o Anyone
o Gender and race do not matter
o Boys and girls are equally likely to have it
o Equally distributed throughout all people
o Six or more light brown spots on the skin, often called “café-au-lait” spots
measuring more than 5 millimeters in diameter in children or more than 15
millimeters across in adolescents and adults.
o Freckling near armpits and groin.
o A tumor on the optic nerve.
o Abnormal development of the spine (scoliosis), the temple (sphenoid)
bone of the skull, or the tibia.
o ADHD.
o Headaches.
o Epilepsy.
o High blood pressure.
o Tumors of various sizes
o Tumors.
o Freckles
o Light brown spots
o Brain
o Spinal cord
o Nervous system
o Skin
o 1 out of 3,500 to 4,000 live births
o 10 times more common than NF2
o Not usually deadly or fatal
o Patients can live normal lives
o Not contagious
o Tumors can become cancerous, then patients are in risk of
extreme sickness or death
o Neurofibromatosis can be tested for
o Eye exams
o MRI’s
o Genetic testing is done, also DNA testing
o People of any age can be tested, at any stage of Neurofibromatosis
o No specific treatments.
o Most common “treatment” is getting tumors removed from
various parts of the body, whether they are malignant or
benign.
o Removes cancer that may be in the tumors.
o This will treat the cancer; prevent it.
o Yes
o National Neurofibromatosis Foundation.
o Neurofibromatosis Support Group.
o Children’s Tumor Foundation
o NF1 is not a rare disorder, it is the most common neurological disorder
caused by a single gene
o NF1 also has a connection to developmental problems, especially learning
disabilities, which are five times more common in the NF1 population than in
the general population
o NF has been classified into three distinct types; NF1, NF2 and
Schwannomatosis. They are caused by different genes, located on different
chromosomes
Autosomal Dominant: A pattern of inheritance in which an affected
individual has one copy of a mutant gene and one normal gene on a
pair of autosomal chromosomes. (In contrast, autosomal recessive
diseases require that the individual have two copies of the mutant
gene.) Individuals with autosomal dominant diseases have a 50-50
chance of passing the mutant gene and therefore the disorder onto
each of their children. Examples of autosomal dominant diseases include
Huntington disease, Neurofibromatosis, and polycystic kidney disease.
The disorder is caused by a mutation in a gene on chromosome 17. The
gene codes for a protein called neurofibromin. This protein regulates the activity
of another protein called ras, which promotes cell division. When the NF1 gene is
mutated, it usually leads to a shortened version of the neurofibromin protein that
cannot bind to ras or regulate its activity. So, the ras protein is more active. Cells
are told to begin dividing and never told when to stop, causing the formation of
tumors.
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2011. <http://www.keepkidshealthy.com/welcome/conditions/neurofibromatosis.html>.