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Relevance to Autism

A LoF variant in the PCDH11X gene was identified in a male ASD proband, but not in male or female controls, in Lim et al., 2013. A second LoF variant in this gene was identifed in a male ASD proband by whole genome sequencing as part of the MSSNG initiative in Yuen et al., 2017. Based on the discovery of multiple LoF variants and a probability of LoF intolerance rate (pLI) > 0.65, PCDH11X was determined to be an ASD candidate gene in Yuen et al., 2017.

Molecular Function

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Disruption of this gene may be associated with developmental dyslexia.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
ASD
Recent Recommendation
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN894R001 
 splice_site_variant 
 c.3033+3633G>A 
  
 Unknown 
  
 Unknown 
 GEN894R002 
 stop_gained 
 c.3052C>T 
 p.Arg1018Ter 
 Unknown 
  
 Simplex 

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
Deletion
 2
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 15
 
X
Deletion
 2
 
X
Duplication
 1
 

No Animal Model Data Available

No PIN Data Available
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