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Relevance to Autism

Patients with hyperprolinemia type I caused by biallelic PRODH mutations have been shown to exhibit early onset and severe neurological features including autistic features (Afenjar et al., 2007).

Molecular Function

This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 [MIM:239500] and susceptibility to schizophrenia 4 (SCZD4) [MIM:600850]. This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Early neurological phenotype in 4 children with biallelic PRODH mutations.
Hyperprolinemia type I
Positive Association
Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypes.
VCFS
ASD
Negative Association
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.
ASD
Support
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients.
ID
Epilepsy/seizures, schizophrenia
Support
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
ASD
Support
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN639R001 
 copy_number_loss 
  
  
 Unknown 
 Not maternal 
 Simplex 
 GEN639R002 
 missense_variant 
 c.1397C>T 
 p.[Thr466Met; Arg185Trp] 
 Familial 
 Maternal 
 Simplex 
 GEN639R003 
 missense_variant 
 c.1322T>C 
 p.[Leu441Pro; Arg185Trp] 
 Familial 
 Maternal 
 Simplex 
 GEN639R004 
 stop_gained 
  
 stop c55 
 Familial 
 Paternal 
 Simplex 
 GEN639R005 
 copy_number_loss 
  
  
 Familial 
 Both parents 
 Simplex 
 GEN639R006 
 missense_variant;missense_variant 
 c.[1397C>T];[1397C>T; 1357C>T] 
 p.[Thr466Met];[Thr466Met; Arg453Cys] 
 Familial 
 Maternal;Paternal 
 Simplex 
 GEN639R007 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN639R008 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN639R009 
 copy_number_loss 
  
  
 Unknown 
  
 Simplex 
 GEN639R010 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN639R011 
 copy_number_loss 
  
  
 Unknown 
  
 Simplex 
 GEN639R012 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN639R013 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN639R014 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN639R015 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN639R017 
 copy_number_loss 
  
  
 De novo 
  
 Simplex 
 GEN639R018 
 missense_variant 
 c.1397C>T 
 p.Thr466Met 
 Familial 
 Paternal 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Deletion-Duplication
 1
 
22
Duplication
 5
 
22
Duplication
 1
 
22
Duplication
 6
  construct
22
Duplication
 1
 
22
Deletion-Duplication
 80
  construct
22
Deletion-Duplication
 11
 
22
Duplication
 1
 

No Animal Model Data Available

No PIN Data Available
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