A de novo missense variant that was predicted by PolyPhen-2 to be probably damaging (Mis3) was identified in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014). Ruzzo et al., 2019 identified three multiplex ASD families from the iHART cohort in which at least one proband in each family had a 2.5-kb deletion in the promoter of the DLG2 gene; no deletions were found to overlap the DLG2 promoter in 26,565 controls, and this deletion was determined to be significantly associated with ASD (3 of 484 unrelated affected children vs. 0 of 2,889 WGS controls, two-sided Fishers exact test, p = 0.003, OR = Inf, 95% CI = 2.47-Inf).
Molecular Function
This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants
