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What is missing in a person with NF2?

Updated: 8/19/2019
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GaleEncyofMedicine

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13y ago

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A person with NF2 is typically born with one unchanged and one changed or missing NF2 gene in every cell of their body. Sometimes they inherit this change from their mother or father

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Q: What is missing in a person with NF2?
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When will a person with NF2 develop an acoustic neuroma?

The mean age of onset of acoustic neuroma in NF2 is 31 years of age versus 50 years of age for sporadic acoustic neuromas.


What is the NF2 gene responsible for?

The NF2 gene is responsible for helping to prevent the formation of tumors in the nerve cells. In particular the NF2 gene helps to prevent acoustic neuromas


How do bilateral acoustic neuromas usually occur?

occur as part of a hereditary condition called Neurofibromatosis Type 2 (NF2). A person with NF2 has inherited a predisposition for developing acoustic neuromas and other tumors of the nerve cells


What is an acoustic neuroma caused by?

caused by a change or absence of both of the NF2 tumor suppressor genes in a nerve cell. Every person possesses a pair of NF2 genes in every cell of their body including their nerve cells


When should a diagnosis of NF2 be considered?

should be considered in someone under the age of 40 who has a unilateral acoustic neuroma. Someone with a unilateral acoustic neuroma and other family members diagnosed with NF2 probably is affected with NF2


Why are genetic specialists called in after a diagnosis of acoustic neuroma is made?

The purpose of this evaluation is to obtain a detailed family history and check for signs of NF2. If NF2 is strongly suspected then DNA testing may be recommended


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