Reciprocal white matter changes associated with copy number variation at 15q11.2 BP1-BP2 – A diffusion tensor imaging study

The 15q11.2 BP1-BP2 cytogenetic region has been associated with learning and motor delays, autism, and schizophrenia. This region includes a gene that codes for the cytoplasmic FMRP interacting protein 1 (CYFIP1). CYFIP1 gene product is involved in actin cytoskeletal dynamics and interacts with the fragile X mental retardation protein (FMRP). Absence of FMRP causes fragile X syndrome (FXS). Since abnormal white matter microstructure has been reported in both FXS and in psychiatric disorders, we looked at the impact of 15q11.2 BP1-BP2 dosage on white matter microstructure.

Source: Biological Psychiatry - November 19, 2018 Category: Psychiatry Authors: Ana I. Silva, Magnus O. Ulfarsson, Hreinn Stefansson, Omar Gustafsson, G Bragi Walters, David E.J. Linden, Lawrence S. Wilkinson, Mark Drakesmith, Michael J. Owen, Jeremy Hall, Kari Stefansson Tags: Archival Report Source Type: research