De novo loss-of-function or missense variants in the WDR26 gene were identified in 15 individuals, all of whom presented with developmental delay/intellectual disability, seizures, gait abnormalities, and distinctive facial features; 5/9 individuals additionally presented with autistic and/or repetitive behaviors or posturing (Skraban et al., 2017). An ASD proband from the Simons Simplex Collection had previously been identified with a novel de novo WDR26 missense variant that was predicted to be damaging (Iossifov et al., 2014).
Molecular Function
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. The protein encoded by this gene may be involved in MAPK pathways.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
