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Relevance to Autism

Exome sequencing of families with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) identified a recurrent missense variant in the PIK3R2 gene in 11 unrelated families; in one of these families, an affected male sibling was also diagnosed with Asperger syndrome, while one of two affected female siblings also had Asperger-like features (Riviere et al., 2012).

Molecular Function

Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Megalencephaly
DD, epilepsy, ASD
Support
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
DD, megalencephaly
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing
DD
Support
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
ID
Macrocephaly

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN552R001 
 missense_variant 
 c.1117G>A 
 p.Gly373Arg 
 De novo 
 NA 
 Multiplex 
 GEN552R002 
 missense_variant 
 c.1117G>A 
 p.Gly373Arg 
 De novo in 7 families, unknown in 3 families 
  
 Unknown 
 GEN552R003 
 missense_variant 
 c.1192G>A 
 p.Val398Ile 
 De novo 
 NA 
 Simplex 
 GEN552R004 
 missense_variant 
 c.1117G>A 
 p.Gly373Arg 
 De novo 
 NA 
 Simplex 
 GEN552R005 
 missense_variant 
 c.1117G>A 
 p.Gly373Arg 
 De novo 
 NA 
 Simplex 
 GEN552R006 
 missense_variant 
 c.1117G>A 
 p.Gly373Arg 
 De novo 
 NA 
  
 GEN552R007 
 missense_variant 
 c.1117G>A 
 p.Gly373Arg 
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion-Duplication
 16
 
19
Duplication
 1
 
19
Duplication
 1
 
19
Duplication
 1
 
19
Duplication
 1
 

No Animal Model Data Available

 

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