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Relevance to Autism

Analysis of induced pluripotent stem cells (iPSCs) from subjects with ASD with deletions affecting PTCHD1-AS (previously reported in Noor et al., 2010 and Chaudhry et al., 2015) demonstrated that iPSC-derived neurons exhibited reduced miniature excitatory postsynaptic current (mESPC) frequency and N-methyl-D-asparate receptor hypofunction (Ross et al., 2019). A novel deletion encompassing the third exon of PTCHD1-AS was observed in three brothers with ASD in the same report; impaired synaptic function was subsequently observed both in CRISPR-edited neurons with a targeted deletion of PTCHD1-AS exon 3 and in iPSC-derived neurons from one of the three ASD-affected brothers.

Molecular Function

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
ASD
Support
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
ASD
Recent Recommendation
Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1129R001 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN1129R002 
 copy_number_loss 
  
  
 Familial 
 Maternal 
  
 GEN1129R003 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 17
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion
 4
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Deletion
 2
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 

No Animal Model Data Available

No PIN Data Available
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