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Relevance to Autism

A diagnosis of autism according to either DSM-IV or DSM-5 criteria was made for four patients with propionic acidemia resulting from biallelic variants in the PCCB gene; one additional patient with a homozygous variant in this gene presented with autistic features (Witters et al., 2016). Administration of propionic acid to rats have been shown to induce autistic-like behaviors in multiple studies (MacFabe et al., 2007; MacFabe et al., 2011; Foley et al., 2014; Foley et al., 2014; Shultz et al., 2015).

Molecular Function

The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2; OMIM 606054).

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Autism in patients with propionic acidemia.
Propionic acidemia
ASD or autistic features
Support
Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.
ASD
Support
Intracerebroventricular injection of propionic acid, an enteric metabolite implicated in autism, induces social abnormalities that do not differ be...
Support
Sexually dimorphic effects of prenatal exposure to propionic acid and lipopolysaccharide on social behavior in neonatal, adolescent, and adult rats...
Support
Pre- and neonatal exposure to lipopolysaccharide or the enteric metabolite, propionic acid, alters development and behavior in adolescent rats in a...
Support
Effects of the enteric bacterial metabolic product propionic acid on object-directed behavior, social behavior, cognition, and neuroinflammation in...
Support
Neurobiological effects of intraventricular propionic acid in rats: possible role of short chain fatty acids on the pathogenesis and characteristic...
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Recent Recommendation
Modulation of mitochondrial function by the microbiome metabolite propionic acid in autism and control cell lines.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN858R001a 
 missense_variant 
 c.562G>A 
 p.Glu188Lys 
  
 Both parents 
  
 GEN858R002a 
 missense_variant 
 c.683C>T 
 p.Pro228Leu 
  
 Both parents 
  
 GEN858R003a 
 missense_variant 
 c.683C>T 
 p.Pro228Leu 
  
 Both parents 
 Multiplex 
 GEN858R004a 
 frameshift_variant 
 c.1218_1231del14ins12 
 p.Gly407ArgfsTer14 
  
  
 Multiplex 
 GEN858R004b 
 missense_variant 
 c.479A>G 
 p.Lys160Arg 
  
  
 Multiplex 
 GEN858R005a 
 missense_variant 
 c.595C>T 
 p.Pro199Ser 
  
 Both parents 
  
 GEN858R006 
 stop_gained 
 c.337C>T 
 p.Arg113Ter 
 Familial 
 Paternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion
 1
 
3
Deletion
 1
 
3
Duplication
 4
 
3
Deletion
 1
 
3
Deletion-Duplication
 16
 

No Animal Model Data Available

 

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