Aliases: NOCGUS
Chromosome No: 10
Chromosome Band: 10p15.3
Genetic Category: Rare single gene variant-Syndromic/Functional
ASD Reports: 6
Recent Reports: 0
Annotated variants: 15
Associated CNVs: 10
Evidence score: 2
Associated Disorders: |
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Relevance to Autism
De novo missense variants in the WDR37 gene have been identified in ASD probands from the Simons Simplex Collection and the BARAKA-Qatar Study (Iossifov et al., 2014; Abdi et al., 2023). One of the three individuals with neurooculocardiogenitourinary syndrome described in Sorokina et al., 2021 was reported to have been diagnosed with autism; in the same report, WDR37 was shown to interact with PACS1 and PACS2, two genes that are responsible for neurodevelopmental disorders in which a subset of affected individuals display autism spectrum disorder (Schuurs-Hoeijmakers syndrome and developmental and epileptic encephalopathy-66, respectively).
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. De novo heterozygous missense variants in this gene are responsible for neurooculocardiogenitourinary syndrome (NOCGUS; OMIM 618652), a multisystem disorder characterized by poor growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems (Kanca et al., 2019; Reis et al., 2019; Sorokina et al., 2021).