Although every person with Neurofibromatosis type 1 (NF1) is born with a mutation (change) in one of their two NF1 genes, the problems arising in any one person can be quite different. In an attempt to better understand the relationship between specific NF1 gene mutation and autism, Dr. Stephanie Morris examined over 50 people with NF1.
Leveraging existing data generated in the Washington University NF Center, Dr. Morris, working with David H. Gutmann MD, PhD, found that people with mutations within the first half of the NF1 gene were less likely to have severe autism symptoms than people with mutations in the second half of the gene. This is the second study to demonstrate that the location of the mutation within the NF1 gene may be an important predictor of specific medical problems.
While these findings are compelling, they are currently not specific enough to allow doctors to predict which child will (or will not) develop autism symptoms. Future studies are currently underway to identify additional factors that may improve our ability to identify those children at greatest risk for autism and other neurodevelopmental problems.
This report was published in the journal, Neurology.
Morris SM, Gutmann DH. A genotype-phenotype correlation for quantitative autistic trait burden in neurofibromatosis 1. Neurology. 2018 Jan 24. pii: 10.1212/WNL.0000000000005000. doi: 10.1212/WNL.0000000000005000. PMID: 29367450.