Neurofibromatosis Clinic

NNFF International NF1 Genetic Mutation Analysis Consortium

Consortium Web Site Facilitates Data Collection
The purpose of the National Neurofibromatosis Foundation (NNFF) International NF1 Genetic Mutation Analysis Consortium is to facilitate communications among  laboratories involved in identification of mutations in NF1. The consortium was established in 1992. This consortium is funded by the NNFF and managed by Dr. Bruce Korf, Harvard Medical School.

Given the large size of the gene and the relative paucity of mutations described to date, it is hoped that this facility will speed the understanding of the types of mutations responsible for NF1 and their locations within the gene.

Collection of mutation information along with clinical data in a standardized format should also improve the ability to establish genotype-phenotype correlations.

Finally, identification of common neutral mutations and polymorphisms should save effort.

This consortium maintains a Web site at http://nf.org/nf1gene/. The site is intended for scientists searching for specific mutations on the NF1 gene. Access to this site is limited to scientists who are contributing data; exceptions will be entered on a case- by-case basis. Once someone has been accepted as a contributor or user of this site he/she will be issued a password with which the site can be accessed freely in future.

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