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Relevance to Autism

Homozygous mutations in the TBC1D23 gene were shown to be responsible for pontocerebellar hypoplasia type 11 (PCH11; OMIM 617695), an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and hypoplasia of the pons and cerebellum on brain imaging (Marin-Valencia et al., 2017; Ivanova et al., 2017). All six affected individuals described in Marin-Valencia et al., 2017 presented with delayed or absent social development. Ivanova et al., 2017 reported that four of the seven affected individuals in their study presented with stereotypic movements (two of whom also presented with autistic behavior), in addition to two individuals that presented with poor communication and interaction and persistent repetitive motor behavior.

Molecular Function

Putative Rab GTPase-activating protein which plays a role in vesicular trafficking. Involved in endosome-to-Golgi trafficking. Acts as a bridging protein by binding simultaneously to golgins, including GOLGA1 and GOLGA4, located at the trans-Golgi, and to the WASH complex, located on endosome-derived vesicles. Plays a role in brain development, including in cortical neuron positioning. May also be important for neurite outgrowth, possibly through its involvement in membrane trafficking and cargo delivery, 2 processes that are essential for axonal and dendritic growth.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Pontocerebellar hypoplasia type 11 (PCH11)
DD, epilepsy/seizures
Support
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
Pontocerebellar hypoplasia type 11 (PCH11)
ID, stereotypic movements, autistic behavior

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN980R001a 
 missense_variant 
 c.1553G>A 
 p.Arg518Gln 
 Familial 
 Both parents 
 Multiplex 
 GEN980R002a 
 splice_site_variant 
 c.1687+2T>A 
  
 Familial 
 Both parents 
 Multiplex 
 GEN980R003a 
 splice_site_variant 
 c.1687+1G>A 
  
 Familial 
 Both parents 
 Simplex 
 GEN980R004a 
 splice_site_variant 
 c.726-2A>G 
  
 Familial 
 Both parents 
 Simplex 
 GEN980R005a 
 frameshift_variant 
 c.1475_1476del 
 p.Val492GlyfsTer8 
 Familial 
 Both parents 
 Multiplex 
 GEN980R006a 
 frameshift_variant 
 c.1526delinsAA 
 p.Ile509LysfsTer31 
 Familial 
 Both parents 
 Multiplex 
 GEN980R007a 
 splice_site_variant 
 c.1687+2T>G 
  
 Familial 
 Both parents 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion
 1
 
3
Deletion-Duplication
 4
 

No Animal Model Data Available

 

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