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Relevance to Autism

A recurrent maternally-inherited missense variant in the PJA1 gene (p.Arg376Cys) that was experimentally shown to result in reduced protein levels was identified in seven Japanese male patients from five unrelated families presenting with neurodevelopmental disorders and trigonocephaly in Suzuki et al., 2020; four of these patients were diagnosed with autism spectrum disorder, while two others presented with autistic traits.

Molecular Function

This gene encodes an enzyme that has E2-dependent E3 ubiquitin-protein ligase activity. This enzyme belongs to a class of ubiquitin ligases that include a RING finger motif, and it can interact with the E2 ubiquitin-conjugating enzyme UbcH5B. This gene is located in an area of chromosome X where several X-linked cognitive disability disorders have been associated, and it has also been found as part of a contiguous gene deletion associated with craniofrontonasal syndrome, though a direct link to any disorder has yet to be demonstrated.

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References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
ID
ASD or autistic features, epilepsy/seizures

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1189R001 
 missense_variant 
 c.1126C>T 
 p.Arg376Cys 
 Familial 
 Maternal 
 Multiplex 
 GEN1189R002 
 missense_variant 
 c.1126C>T 
 p.Arg376Cys 
 Familial 
 Maternal 
 Multiplex 
 GEN1189R003 
 missense_variant 
 c.961C>T 
 p.Arg321Cys 
 Familial 
 Maternal 
 Simplex 
 GEN1189R004 
 missense_variant 
 c.1126C>T 
 p.Arg376Cys 
 Familial 
 Maternal 
 Simplex 
 GEN1189R005 
 missense_variant 
 c.1126C>T 
 p.Arg376Cys 
 Familial 
 Maternal 
 Simplex 
 GEN1189R006 
 missense_variant 
 c.623C>T 
 p.Ser208Phe 
 Familial 
 Paternal 
 Simplex 
 GEN1189R007 
 missense_variant 
 c.1457C>A 
 p.Pro486His 
 Familial 
 Paternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 
X
Duplication
 2
 
X
Deletion
 2
 
X
Duplication
 1
 
X
Duplication
 2
 
X
Duplication
 2
 
X
Duplication
 1
 

No Animal Model Data Available

 

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