Collaborative NF Team Reports NF1 Mutation in a Family without NF1

Children with NF1 are born with a genetic change, called a mutation, in one of their two NF1 genes. This mutation causes NF1. Work in many groups, including investigators in the Washington University NF Center, have found that the specific NF1 mutation may be one factor that determines the types of medical problems that a given person with NF1 is at risk for developing.

In addition, NF1 mutations have also been discovered in cancers in people without NF1, suggesting that the NF1 gene is similarly important for tumor formation or growth in the general population.

Extending this observation, a team composed of genetics expert, Dr. Tychele Turner, and Washington University team members, Mrs. Erika Ramirez, Dr. David Gutmann, and Dr. Stephanie Morris, now report a family without NF1 who has a mutation in the NF1 gene. This family does not have café-au-lait macules or other features of NF1, but does have another type of benign tumor not typically seen in people with NF1.

This work was recently published in Neurology: Genetics.