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Relevance to Autism

Caubit et al., 2016 evaluated 7 new patients and 15 previously reported cases with 19q12-q13.11 deletions and determined that TSHZ3 lies within the minimal region of overlap for 19q12-q13.11 deletions found in patients with neurodevelopmental disorders, including ASD. Tshz3 +/- mice display altered corticostriatal synaptic transmission and plasticity and autism-like behavioral defects (Caubit et al., 2016).

Molecular Function

This gene encodes a zinc-finger transcription factor involved in developmental processes.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.
ASD, ID
Support
Integrating de novo and inherited variants in 42
ASD
Support
Targeted Tshz3 deletion in corticostriatal circuit components segregates core autistic behaviors
ASD
Support
Postnatal Tshz3 Deletion Drives Altered Corticostriatal Function and Autism Spectrum Disorder-like Behavior.
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN850R001 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN850R002 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN850R003 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN850R004 
 copy_number_loss 
  
  
 De novo 
  
  
 GEN850R005 
 copy_number_loss 
  
  
 Familial 
 Paternal 
  
 GEN850R006 
 copy_number_loss 
  
  
 Unknown 
  
  
 GEN850R007 
 intergenic_variant 
 C>T 
  
  
  
 Unknown 
 GEN850R008 
 synonymous_variant 
 c.2661C>T 
 p.Pro887%3D 
 De novo 
  
 Simplex 
 GEN850R009 
 missense_variant 
 c.1288G>A 
 p.Val430Ile 
 De novo 
  
 Simplex 
 GEN850R010 
 stop_gained 
 c.250C>T 
 p.Arg84Ter 
 De novo 
  
 Multiplex 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Duplication
 1
 
19
Duplication
 1
 
19
Deletion-Duplication
 11
 
19
Duplication
 3
 

Model Summary

Tshz3 null mice die at birth due to respiratory failure. Tshz3 heterozygous mice also display increased perinatal lethality, the ones that survive display increased repetitive behavior (digging and nose poking) and anxiety and impaired social approach and memory.

References

Type
Title
Author, Year
Primary
TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.
Additional
Targeted Tshz3 deletion in corticostriatal circuit components segregates core autistic behaviors
Model Type: Genetic
Model Genotype: Homozygous
Mutation: Exon 2 of Tshz3 gene is replaced with a lacZ and neo cassette leading to a loss of TSHZ3 protein expression, after germline transmission the mice were bred to homozygosity.
Allele Type: Targeted (knockout, marker)
Strain of Origin:
Genetic Background: CD1
ES Cell Line:
Mutant ES Cell Line:
Model Source: PMID: 20631175
Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality: neonatal1
Increased
 Survival analysis
 P0
Gene expression1
Abnormal
 Rna sequencing
 E18.5
Anatomical projections and connectivity1
 No change
 Immunostaining
 E18.5
Cortical lamination1
 No change
 Immunostaining
 E18.5
Neuronal number1
 No change
 Immunostaining
 E18.5
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

 

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