We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Neurofibromatosis Type 1 Implicates Ras Pathways in the Genetic Architecture of Neurodevelopmental Disorders.
- Authors
Kaczorowski, Jessica A.; Smith, Taylor F.; Shrewsbury, Amanda M.; Thomas, Leah R.; Knopik, Valerie S.; Acosta, Maria T.
- Abstract
The genetic architecture of neurodevelopmental disorders is largely polygenic, non-specific, and pleiotropic. This complex genetic architecture makes the search for specific etiological mechanisms that contribute to neurodevelopmental risk more challenging. Monogenic disorders provide an opportunity to focus in on how well-articulated signaling pathways contribute to risk for neurodevelopmental outcomes. This paper will focus on neurofibromatosis type 1 (NF1), a rare monogenic disorder that is associated with varied neurodevelopmental outcomes. Specifically, this paper will provide a brief overview of NF1 and its phenotypic associations with autism spectrum disorder, attention-deficit/hyperactivity disorder, and specific learning disorders, describe how variation within the NF1 gene increases risk for neurodevelopmental disorders via altered Ras signaling, and provide future directions for NF1 research to help elucidate the genetic architecture of neurodevelopmental disorders in the general population.
- Subjects
NEUROFIBROMATOSIS 1; ATTENTION-deficit hyperactivity disorder; AUTISM spectrum disorders; LEARNING disabilities; DISEASES
- Publication
Behavior Genetics, 2020, Vol 50, Issue 4, p191
- ISSN
0001-8244
- Publication type
Article
- DOI
10.1007/s10519-020-09991-x