von recklinghausen neurofibromatosis nf1 by: jessica mollman

Neurofibromatosis 1Von Recklinghausen Neurofibromatosis

NF1

By: Jessica Mollman

Affects Mostly…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

SYMPTOMSo 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.

Mostly Affectso Braino Spinal cord o Nervous systemo Skin

Recognizable By…

o Tumors of various sizeso Freckleso Light brown spots

How Common Is Neurofibromatosis?

o 1 out of 3,500 to 4,000 live births

o 10 times more common than NF2

Fatality and Lifespano 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

Testingo 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

Treatmentso 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.

Support Groupso Yeso National Neurofibromatosis Foundation.o Neurofibromatosis Support Group. o Children’s Tumor Foundation

Interesting Factso NF1 is not a rare disorder, it is the most common neurological disorder caused by a single geneo 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 populationo NF has been classified into three distinct types; NF1, NF2 and Schwannomatosis. They are caused by different genes, located on different chromosomes

Inheritance Pattern 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.

Chromosome/ Gene it’s Located

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.

Works Cited

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"Genome.gov | Learning about Neurofibromatosis." Genome.gov | National Human Genome Research Institute

(NHGRI) - Homepage. Web. 27 Jan. 2011. <http://www.genome.gov/14514225>.

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<http://www.mdjunction.com/neurofibromatosis>.

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NF. Web. 27 Jan. 2011. <http://www.nfaa.org.au/about_facts&stats.htm>.

"Neurofibromatosis Type 1." Learn.Genetics™. Web. 27 Jan. 2011.

<http://learn.genetics.utah.edu/content/disorders/whataregd/nf1/>.

Works Cited

"Neurofibromatosis Type 1 - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding

Genetic Conditions. Web. 27 Jan. 2011. <http://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1>.

"Genome.gov | Learning about Neurofibromatosis." Genome.gov | National Human Genome Research Institute

(NHGRI) - Homepage. Web. 27 Jan. 2011. <http://www.genome.gov/14514225>.

"Neurofibromatosis in Children - Keep Kids Healthy." Keep Kids Healthy - Free Pediatric Parenting Advice. Web. 27

Jan. 2011. <http://www.keepkidshealthy.com/welcome/conditions/neurofibromatosis.html>.

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