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).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
Neurooculocardiogenitourinary syndrome, DD, ID, ep
