Neurofibromatosis

Human Heredity Project

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Other names:

  • Neurofibromatosis 1
  • NF1
  • Peripheral Neurofibromatosis
  • Recklinghausen Disease, Nerve
  • von Recklinghausen Disease

Causes, Symptoms, Treatments and Prevention

Neurofibromatosis is caused by a gene mutation on the F1 gene. The gene is supposed to control the growth of the nerve tissue. Without the protein working correctly the nerve tissue keeps growing and can develop tumors.


Symptoms may include:


  • coffee colored patches on the skin
  • freckles in unusual places (armpits)
  • bumps on and maybe under their skin
  • learning and behavioral problems
  • tumor on the optic pathway
  • high blood pressure




There is no cure for neurofibromatosis but there are treatments. Typically, children with this condition get yearly examinations. People who have spots of discoloration usually use make up to cover the spots. If people have bumps under the skin then it can be treated with plastic surgery or laser surgery. If they tumor on the optic nerve gets to be too big then the child or adult can do chemotherapy to shrink the tumor.


It can not be prevented but people can be tested to see if they have NF or if their children have it.

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Population

- Every 1 in 3,000 people get NF in the USA.

- 30-50% cases diagnosed occur from spontaneous genetic mutation

Inheritance

Neurofibromatsois is an autosomal dominant inheritance. Usually if one parent had it then the child will get it. Typically what will happen is that the child will only have 1 altered copy of the gene and develop anther one over time. You need 2 altered genes in order to trigger tumor formation.

It is located on chromosome 17

Children with Neurfibromatosis

Children who inherit this disorder get it from their parents. When they get older they will be able to have children of their own but those kids are also at risk of getting neurofibromatosis. Kids with this disease may need assistance when they develop more obvious symptoms such as bumps when they are older.

Long Term Effects:


  • high blood pressure
  • blindness
  • deafness
  • seizures
  • speech problems
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Research

Research in the mid 1990s found that the mutation is cause don chromosome 17. Now researchers are trying to find the cause or spontaneous genetic mutations through clinical research. Researchers are also aimed at better diagnosing and learning if you have NF sooner.

Works Cited

NIH. "Neurofibromatosis Type 1." Genetics Home Reference. US National Library of Medicine, 26 Apr. 2016. Web. 05 May 2016. <https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1>.


NHS. "Neurofibromatosis Type 1." Neurofibromatosis Type 1. NHS Choices, 16 Mar. 2015. Web. 05 May 2016. <http://www.nhs.uk/Conditions/Neurofibromatosis/Pages/Causes.aspx>.


Remmedy. "Neurofibromatosis Treatment, Prevention." - Neurofibrmatosis. Health Communities.com, 30 Apr. 2001. Web. 05 May 2016. <http://www.healthcommunities.com/neurofibromatosis/treatment.shtml>.


Englert, Chad. "Neurofibromatosis-1: MedlinePlus Medical Encyclopedia."U.S National Library of Medicine. U.S. National Library of Medicine, 9 Nov. 2014. Web. 05 May 2016. <https://www.nlm.nih.gov/medlineplus/ency/article/000847.htm>.