Cognition and behavior in neurofibromatosis type 1: report and perspective from the Cognition and Behavior in NF1 (CABIN) Task Force

• DOI: 10.1101/gad.352629.125
• Publication Date: 2025-03-24T19:17:43Z
• Authors: David H. Gutmann; Corina Anastasaki; Aditi Gupta; Yang Hou; Stephanie M. Morris; Jonathan M. Payne; Jacob Raber; Seth M. Tomchik; Linda Van Aelst; James A. Walker; Kaleb H. Yohay

Individuals with neurofibromatosis type 1 (NF1) are prone to the evolution of neurodevelopmental symptomatology including motor delays, learning disabilities, autism, and attention deficits. Caused by heterozygous germline mutations in NF1 gene, this monogenic condition offers unique opportunities study genetic etiologies for disorders mechanisms that underlie their formation. Although numerous small animal models have been generated elucidate causes these alterations, there is little consensus on how align preclinical observations clinical outcomes, harmonize findings across species, consolidate insights chart a cohesive path forward. Capitalizing expertise from clinicians; human, animal, cellular model research scientists; bioinformatics researchers, first Cognition Behavior (CABIN) meeting was convened at Banbury Center Cold Spring Harbor Laboratory October 2024. This Perspective summarizes state our understanding proposed plan future investigation exploration improve quality life those NF1.