RE: Segmental neurofibromatosis in childhood [Listernick et al., 2003: Am. J. Med. Genet. 121A:132-135.]
✍ Scribed by Hall, Judith G.
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 22 KB
- Volume
- 128A
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
discuss the importance of recognizing segmental neurofibromatosis. They also point out that most often when an individual affected with segmental neurofibromatosis does have children, they have unaffected children, but if the children are affected, they usually have phenotypic expression of neurofibromatosis type I throughout their body. There are, however, some rare families where both the parent and child have segmental neurofibromatosis, usually involving different segments . A likely explanation of the second situation would be that a transposable element was involved, and that truncation of the NF protein was caused by insertion into the NF gene. This transposable element and the resulting mutation could be present in some of the tissues and germ cells, which are setaside early in the development. The transposable element could 'pop' out during the course of embryonic development, which would then lead to normalization of some or most tissues. There is no evidence that neurofibromatosis has been caused by transposable elements. However, in familial segmental neurofibromatosis, studies to identify LINE elements should be possible.