Mutations in the NF1 gene can result in neurofibromatosis type 1, a genetic disorder that usually appears in childhood. Now, researchers at Washington University School of Medicine found that NF1 also contributes to autism spectrum disorder (ASD). The results of the study were reported in JAMA Psychiatry. CusAb -- a biotech company -- produces various proteins such as Recombinant FGFR4 and NF1. NF1, which affects one in 3,000 live births and affects males and females of all races equally, is characterized by changes in the skin, such as café-au-lait spots, and the growth of nerve system tumors. The disease can lead to other complications such as learning problems, scoliosis and seizures. Some recent studies have reported elevated autistic symptoms in individuals with NF1. But the association between autism and NF1 is not completely understood. A better understanding of their relationship would help us to understand the pathogenic mechanisms of ASD. In this study, the researchers analyzed primary data from 531 individuals with NF1. They found that NF1 mutations contributed to autistic behaviors in about half of the patients. Lead researcher of the study, John N. Constantino, said that NF1 mutations drove most of the symptoms of autism in children with NF1. The data indicated that there is a link between the NF1 gene and ASD. Most cases of ASD are influenced by multiple genes. Establishing NF1 as a monogenic cause for ASD has important implications for affected patients and for future research focused on finding potential treatment targets for ASD. ASD affects 1% to 2% of children worldwide. Patients have problems to some degree with social interaction, communication, and flexible behavior. The study would allow scientists to develop new treatments for some children.
