Relevance to Autism

Snijders Blok et al., 2022 described 11 unrelated individuals with six different rare de novo germline missense variants in the WDR5 gene who presented with a neurodevelopmental syndrome characterized by speech/language delay, intellectual disability, epilepsy, autism spectrum disorder or autistic features, abnormal growth parameters, and overlapping facial features, including a bulbous nasal tip, low-set, posteriorly rotated, and/or dysplastic ears, ptosis, and thin upper lip vermillion; additional three-dimensional protein structure analysis indicated that all of the residues affected by these variants were clustered on the surface of one side of the WDR5 protein. Eising et al., 2019 had previously reported a de novo missense variant in the WDR5 gene in a proband with childhood apraxia of speech.

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.

External Links

References