A de novo likely gene disruptive (LGD) variant and two de novo missense variants in the PBX1 gene were identified in ASD probands (De Rubeis et al., 2014; Yuen et al., 2017), while two additional de novo missense variants in this gene were identified in probands with unspecified developmental disorders (Deciphering Developmental Disorders Study 2017). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified PBX1 as a gene with an excess of missense variants (false discovery rata < 5%, count >1) (Coe et al., 2018). Two de novo loss-of-function variants and two rare and potentially damaging missense variants in the PBX1 gene were reported in ASD probands from the Autism Sequencing Consortium and the SPARK cohort in Zhou et al., 2022; a two-stage analysis of rare de novo and inherited coding variants in 42,607 ASD cases, including 35,130 new cases from the SPARK cohort, in this report identified PBX1 as a gene reaching study-wide significance based on 5,754 constraint genes (P < 8.69E-06).
Molecular Function
This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
