i was tested for my son on NF useing the gene test. i was told by the doc that i was in a 5% group where the neurofibroma gene is not showing it self and this was the second time i had it done the first time it showed i had type 1. i was just wondering if anyone knew howthat can be because the doctor here is confused as much as i am on how it happend. i was told it was rare for something like this outta of 100 people only 5% have what i have. can anyone help me out???
Neurofibromatosis type 1 (also known as NF type 1 or von Recklinghausen disease) is a genetic condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms vary greatly even among affected members of the same family.
About 1 in 3,000 to 1 in 4,000 people worldwide are affected with NF type 1. It is one of the most common inherited disorders.
NF type 1 is caused by mutations in a gene called NF1, which is located at 17q11.2. We all have two copies of the NF1 gene - one from each parent. In NF type 1, having a mutation in a single gene copy is sufficient to cause the disease. This is called autosomal dominant inheritance. A person with a mutation has a 50% chance with each pregnancy to have an affected child and a 50% chance to have a child that doesn't inherit the mutation and therefore, does not have NF.
We recommend that you meet with a medical geneticist who can review your personal history, your son's history, your family history and all test results. A medical geneticist is a doctor who specializes in genetic conditions such as NF. You can find a medical geneticist at the American College of Medical Genetics website. We wish you the best.
The Content on this Site is presented in a summary fashion, and is intended to be used for educational and entertainment purposes only. It is not intended to be and should not be interpreted as medical advice or a diagnosis of any health or fitness problem, condition or disease; or a recommendation for a specific test, doctor, care provider, procedure, treatment plan, product, or course of action. Med Help International, Inc. is not a medical or healthcare provider and your use of this Site does not create a doctor / patient relationship. We disclaim all responsibility for the professional qualifications and licensing of, and services provided by, any physician or other health providers posting on or otherwise referred to on this Site and/or any Third Party Site. Never disregard the medical advice of your physician or health professional, or delay in seeking such advice, because of something you read on this Site. We offer this Site AS IS and without any warranties. By using this Site you agree to the following Terms and Conditions. If you think you may have a medical emergency, call your physician or 911 immediately.