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Relevance to Autism

A de novo translocation disrupting the PRR12 gene was identified in a female patient presenting with intellectual disability, seizures, and behavioral problems in Crdova-Fletes et al., 2015. Three de novo potentially loss-of-function (LoF) variants in the PRR12 gene were identified in patients presenting with intellectual disability, iris abnormalities, and dysmorphic features in Leduc et al., 2018; two of these patients were also diagnosed with ASD by formal testing.

Molecular Function

This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.
ID
ASD, ADHD
Support
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Support
A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alt...
ID, epilepsy/seizures
Behavioral abnormalities

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1008R001 
 translocation 
  
  
 De novo 
 NA 
  
 GEN1008R002 
 stop_gained 
 c.1918G>T 
 p.Glu640Ter 
 De novo 
 NA 
  
 GEN1008R003 
 frameshift_variant 
 c.4691_4694del 
 p.Glu1564AlafsTer83 
 De novo 
 NA 
  
 GEN1008R004 
 frameshift_variant 
 c.425_431dup 
 p.Ser146ValfsTer37 
 De novo 
 NA 
  
 GEN1008R005 
 stop_gained 
 c.4174C>T 
 p.Arg1392Ter 
 De novo 
 NA 
 Simplex 
 GEN1008R006 
 frameshift_variant 
 c.3273del 
 p.Lys1092ArgfsTer131 
 De novo 
 NA 
 Simplex 
 GEN1008R007 
 translocation 
  
  
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Duplication
 1
 
19
Deletion-Duplication
 18
 

No Animal Model Data Available

No PIN Data Available
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