A de novo splice-site variant in the FCRL6 gene was identified in an ASD proband from the Simons Simplex Collection in Sanders et al., 2012. Additional loss-of-function and damaging missense variants in this gene were identified in ASD probands from the Autism Sequencing Consortium in De Rubeis et al., 2014. Rare inherited loss-of-function variants in FCRL6 were identified in ASD probands from the Simons Simplex Collection in Krumm et al., 2015. Transmission and De Novo Association (TADA) analysis of a combined cohort consisting of 536 Chinese ASD probands and 1457 Chinese controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, in Guo et al., 2017 identified FCRL6 as an ASD candidate gene with a PTADA of 0.000707.
Molecular Function
This gene is xpressed by cytolytic cells including NK cells, effector and effector-memory CD8+ T-cells and Interacts with PTPN11.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
