Neurofibromatosis (NF1): Overview and clinical management

Notes

GENETIC DISORDER PROJECT - Guiding questions to aid in your research… 1. What is the name of the disorder? (Are there any other names?) This disorder is typically called Neurofibromatosis, but is often shortened to NF. There are two types of NF, NF1 (Von Recklinghausen’s syndrome 1) and NF2 (bilateral acoustic NF, central NF, or vestibular NF), but I will be focusing on NF1 primarily for my presentation. 2. What causes the disorder? (gene mutation, chromosome mutation) NF1 and NF2 are both caused by a gene mutation that occurs in the egg or sperm cell before birth. 3. What gene or chromosome is affected by this disorder? (X, Y, #21) The gene that is affected by Neurofibromatosis 1 is caused by a gene mutation on the seventeenth chromosome, while Neurofibromatosis 2 is caused by a mutation to a gene on the 22nd chromosome. 4. Are there prenatal tests for this disorder? List the specific name(s) of the test(s). **prenatal test - test before the baby is born to detect problems Yes, neurofibromatosis screenings (chorionic villus sampling) are available to test for both NF1 and NF2, but are only given prenataly when both or just one of the parents has neurofibromatosis. 5. What are the ...