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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).

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
ASD
DD, ID, epilepsy/seizures
Support
Neurooculocardiogenitourinary syndrome, DD, epilep
ASD
Support
Neurooculocardiogenitourinary syndrome, DD, epilep
Support
Neurooculocardiogenitourinary syndrome, DD, ID, ep
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1424R001 
 missense_variant 
 c.20G>A 
 p.Ser7Asn 
 De novo 
  
 Simplex 
 GEN1424R002 
 missense_variant 
 c.377A>T 
 p.Tyr126Phe 
 De novo 
  
  
  et al.  
 GEN1424R003 
 synonymous_variant 
 c.795C>T 
 p.Ser265= 
 De novo 
  
  
 GEN1424R004 
 missense_variant 
 c.374C>T 
 p.Thr125Ile 
 De novo 
  
  
  et al.  
 GEN1424R005 
 missense_variant 
 c.386C>G 
 p.Ser129Cys 
 De novo 
  
  
  et al.  
 GEN1424R006 
 missense_variant 
 c.356C>T 
 p.Ser119Phe 
 De novo 
  
  
  et al.  
 GEN1424R007 
 missense_variant 
 c.386C>G 
 p.Ser129Cys 
 De novo 
  
  
  et al.  
 GEN1424R008 
 missense_variant 
 c.389C>T 
 p.Thr130Ile 
 De novo 
  
  
  et al.  
 GEN1424R009 
 missense_variant 
 c.356C>T 
 p.Ser119Phe 
 De novo 
  
  
  et al.  
 GEN1424R010 
 missense_variant 
 c.389C>T 
 p.Thr130Ile 
 De novo 
  
  
  et al.  
 GEN1424R011 
 missense_variant 
 c.374C>T 
 p.Thr125Ile 
 De novo 
  
  
  et al.  
 GEN1424R012 
 missense_variant 
 c.386C>G 
 p.Ser129Cys 
 De novo 
  
  
  et al.  
 GEN1424R013 
 missense_variant 
 c.659A>G 
 p.Asp220Gly 
 De novo 
  
 Simplex 
  et al.  
 GEN1424R014 
 missense_variant 
 c.778G>A 
 p.Asp260Asn 
 De novo 
  
 Simplex 
  et al.  
 GEN1424R015 
 missense_variant 
 c.770C>A 
 p.Pro257His 
 Familial 
 Maternal 
 Simplex 
  et al.  
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
10
Deletion
 7
 
10
Deletion-Duplication
 24
 
10
Duplication
 2
 
10
Duplication
 1
 
10
Duplication
 1
 
10
Duplication
 1
 
10
Deletion
 3
 
10
Deletion-Duplication
 3
 
10
Deletion
 4
 
10
Duplication
 6
 

No Animal Model Data Available

 

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