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Relevance to Autism

A de novo splice-site variant in the CHM gene was identified in an ASD proband from (Yuen et al., 2017), while rare de novo non-coding variants in this gene have been identified in ASD probands from multiple studies (Michaelson et al., 2012; Turner et al., 2016; Yuen et al., 2017; Turner et al., 2017). More recently, a maternally-inherited missense variant in CHM was identified in a male ASD proband from a cohort of 100 Vietnamese children with ASD (Tran et al., 2020).

Molecular Function

This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Support
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
ASD, DD
Support
Genetic landscape of autism spectrum disorder in Vietnamese children
ASD
Support
Genomic Patterns of De Novo Mutation in Simplex Autism
ASD
Support
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
ASD
Support
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1186R001 
 splice_site_variant 
 c.190-1G>A 
  
 De novo 
 NA 
 Simplex 
 GEN1186R002 
 missense_variant 
 c.866T>C 
 p.Met289Thr 
 Familial 
 Maternal 
 Simplex 
 GEN1186R003 
 intron_variant 
 c.117-11055C>T 
  
 De novo 
 NA 
 Multiplex (monozygotic twins) 
 GEN1186R004 
 intron_variant 
 c.116+13814C>T 
  
 De novo 
 NA 
 Simplex 
 GEN1186R005 
 intron_variant 
 c.1166+1308A>T 
  
 De novo 
 NA 
 Simplex 
 GEN1186R006 
 intron_variant 
 c.1167-22212_1167-22208del 
  
 De novo 
 NA 
 Multiplex 
 GEN1186R007 
 intron_variant 
 c.702+1347G>T 
  
 De novo 
 NA 
 Multiplex 
 GEN1186R008 
 intron_variant 
 c.1167-1998_1167-1988del 
  
 De novo 
 NA 
 Multiplex 
 GEN1186R009 
 intron_variant 
 c.1510+2813C>T 
  
 De novo 
 NA 
 Multiplex 
 GEN1186R010 
 intron_variant 
 c.1167-1458A>T 
  
 De novo 
 NA 
 Simplex 
 GEN1186R011 
 missense_variant 
 c.1308C>A 
 p.Asp436Glu 
 Familial 
 Maternal 
 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
Deletion
 2
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion
 4
 

No Animal Model Data Available

 

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