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Relevance to Autism

Mutations in the CHAMP1 gene are associated with a form of autosomal dominant intellectual disability (MRD40; OMIM 616579); affected individuals frequently display behavioral abnormalities, and autism or autistic features such as stereotypic behavior have been observed in a subset of individuals with this disorder (Hempel et al., 2015; Isidor et al., 2016; Tanaka et al., 2016; Okamoto et al., 2017). A de novo missense variant in the CHAMP1 gene has also been identified in an ASD proband from a multiplex family from the ASD: Genomes to Outcome Study cohort in Yuen et al., 2017.

Molecular Function

This gene encodes a zinc finger protein that functions as a regulator of chromosome segregation in mitosis. The encoded protein is required for correct alignment of chromosomes on the metaphase plate, and plays a role in maintaining the attachment of sister kinetochores to microtubules from opposite spindle poles.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
Autosomal dominant mental retardation-40 (MRD40)
ASD, stereotypy
Support
CHAMP1 premature termination codon mutations found in individuals with intellectual disability cause a homologous recombination defect through haploinsufficiency
Neurodevelopmental disorder with hypotonia, impair
Support
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
ASD, DD
Support
Deficiency of CHAMP1, a gene related to intellectual disability, causes impaired neuronal development and a mild behavioural phenotype
Support
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort
ASD
Support
Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation.
Autosomal dominant mental retardation-40 (MRD40)
Stereotypy
Support
Integrating de novo and inherited variants in 42
ASD
Support
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
DD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Support
CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism
Autosomal dominant intellectual developmental diso
ASD, ADHD
Support
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile
DD, epilepsy/seizures
Support
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.
Autosomal dominant mental retardation-40 (MRD40)
Autistic features (ritualized behavior)
Support
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
DD, ID
Support
DD, ID
Stereotypy
Support
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.
Autosomal dominant mental retardation-40 (MRD40)
ASD
Support
Intellectual disability and microcephaly associated with a novel CHAMP1 mutation
Autosomal dominant mental retardation-40
DD, ID
Support
Neurodevelopmental disorder with hypotonia, impair
Support
First Chinese patient with mental retardation-40 due to a de novo CHAMP1 frameshift mutation: Case report and literature review
Autosomal dominant mental retardation-40
DD
Support
DD, ID, epilepsy/seizures
Stereotypy
Recent Recommendation
Neurodevelopmental Phenotypes in Individuals with Pathogenic Variants in CHAMP1
DD/ID
ASD, epilepsy/seizures

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1134R001 
 frameshift_variant 
 c.1866_1867del 
 p.Asp622GlufsTer8 
 De novo 
  
  
 GEN1134R002 
 stop_gained 
 c.1768C>T 
 p.Gln590Ter 
 De novo 
  
  
 GEN1134R003 
 stop_gained 
 c.1192C>T 
 p.Arg398Ter 
 De novo 
  
  
 GEN1134R004 
 frameshift_variant 
 c.635del 
 p.Pro212LeufsTer7 
 De novo 
  
  
 GEN1134R005 
 stop_gained 
 c.1192C>T 
 p.Arg398Ter 
 De novo 
  
  
 GEN1134R006 
 stop_gained 
 c.1880C>G 
 p.Ser627Ter 
 De novo 
  
 Simplex 
 GEN1134R007 
 stop_gained 
 c.1002G>A 
 p.Trp334Ter 
 De novo 
  
 Simplex 
 GEN1134R008 
 frameshift_variant 
 c.1876_1877del 
 p.Ser626LeufsTer4 
 De novo 
  
 Simplex 
 GEN1134R009 
 stop_gained 
 c.1043G>A 
 p.Trp348Ter 
 De novo 
  
 Simplex 
 GEN1134R010 
 frameshift_variant 
 c.958_959del 
 p.Pro320Ter 
 De novo 
  
 Simplex 
 GEN1134R011 
 stop_gained 
 c.1489C>T 
 p.Arg497Ter 
 De novo 
  
 Simplex 
 GEN1134R012 
 frameshift_variant 
 c.1044del 
 p.Trp348Ter 
 De novo 
  
  
 GEN1134R013 
 frameshift_variant 
 c.542_543del 
 p.Ser181CysfsTer5 
 De novo 
  
  
 GEN1134R014 
 stop_gained 
 c.1945C>T 
 p.Gln649Ter 
 De novo 
  
  
 GEN1134R015 
 stop_gained 
 c.1969C>T 
 p.Gln657Ter 
 De novo 
  
  
 GEN1134R016 
 stop_gained 
 c.2029G>T 
 p.Glu677Ter 
 De novo 
  
  
 GEN1134R017 
 missense_variant 
 c.1292G>A 
 p.Arg431His 
 De novo 
  
 Multiplex 
 GEN1134R018 
 frameshift_variant 
 c.2068_2069del 
 p.Glu690SerfsTer5 
 De novo 
  
 Simplex 
 GEN1134R019 
 stop_gained 
 c.1192C>T 
 p.Arg398Ter 
 De novo 
  
  
 GEN1134R020 
 stop_lost 
 c.2438G>T 
 p.Ter813LeuextTer1 
 Unknown 
  
  
 GEN1134R021 
 frameshift_variant 
 c.606dup 
 p.Pro203SerfsTer14 
 Unknown 
  
  
 GEN1134R022 
 frameshift_variant 
 c.1880dup 
 p.Asp628ArgfsTer3 
 Unknown 
  
  
 GEN1134R023 
 frameshift_variant 
 c.2067_2070del 
 p.Glu690LeufsTer12 
 Unknown 
  
  
 GEN1134R024 
 frameshift_variant 
 c.606del 
 p.Pro203LeufsTer16 
 Unknown 
  
  
 GEN1134R025 
 stop_gained 
 c.1192C>T 
 p.Arg398Ter 
 Unknown 
  
  
 GEN1134R026 
 stop_lost 
 c.2438G>T 
 p.Ter813LeuextTer1 
 Unknown 
  
  
 GEN1134R027 
 missense_variant 
 c.37C>T 
 p.Arg13Cys 
 Unknown 
  
  
 GEN1134R028 
 frameshift_variant 
 c.542_543del 
 p.Ser181CysfsTer5 
 De novo 
  
  
 GEN1134R029 
 frameshift_variant 
 c.661dup 
 p.Thr221AsnfsTer3 
 De novo 
  
  
 GEN1134R030 
 frameshift_variant 
 c.959dup 
 p.Arg321Ter 
 De novo 
  
  
 GEN1134R031 
 stop_gained 
 c.1489C>T 
 p.Arg497Ter 
 De novo 
  
  
 GEN1134R032 
 stop_gained 
 c.1489C>T 
 p.Arg497Ter 
 De novo 
  
  
 GEN1134R033 
 stop_gained 
 c.1489C>T 
 p.Arg497Ter 
 De novo 
  
  
 GEN1134R034 
 stop_gained 
 c.1489C>T 
 p.Arg497Ter 
 De novo 
  
  
 GEN1134R035 
 stop_gained 
 c.1544G>A 
 p.Trp515Ter 
 De novo 
  
  
 GEN1134R036 
 stop_gained 
 c.1657G>T 
 p.Glu553Ter 
 De novo 
  
  
 GEN1134R037 
 frameshift_variant 
 c.1850dup 
 p.Lys618GlufsTer13 
 De novo 
  
  
 GEN1134R038 
 stop_gained 
 c.2127T>G 
 p.Tyr709Ter 
 De novo 
  
  
 GEN1134R039 
 stop_gained 
 c.2127T>G 
 p.Tyr709Ter 
 De novo 
  
  
 GEN1134R040 
 frameshift_variant 
 c.530delinsTTT 
 p.Ser177PhefsTer2 
 De novo 
  
 Simplex 
 GEN1134R041 
 stop_gained 
 c.1465C>T 
 p.Gln489Ter 
 De novo 
  
 Simplex 
 GEN1134R042 
 frameshift_variant 
 c.1995dup 
 p.Ser666Ter 
 De novo 
  
 Simplex 
 GEN1134R043 
 synonymous_variant 
 c.1596C>T 
 p.Pro532= 
 De novo 
  
 Simplex 
 GEN1134R044 
 stop_gained 
 c.1858A>T 
 p.Lys620Ter 
 De novo 
  
 Simplex 
 GEN1134R045 
 missense_variant 
 c.67G>A 
 p.Gly23Ser 
 De novo 
  
 Simplex 
 GEN1134R046 
 copy_number_loss 
  
  
 De novo 
  
 Simplex 
 GEN1134R047 
 stop_gained 
 c.1192C>T 
 p.Arg398Ter 
 De novo 
  
 Simplex 
 GEN1134R048 
 frameshift_variant 
 c.1903_1906del 
 p.Glu635ThrfsTer2 
 De novo 
  
  
 GEN1134R049 
 stop_gained 
 c.1489C>T 
 p.Arg497Ter 
 De novo 
  
  
 GEN1134R050 
 stop_gained 
 c.796G>T 
 p.Glu266Ter 
 De novo 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
13
Duplication
 1
 
13
Deletion
 1
 
13
Duplication
 2
 
13
Duplication
 1
 
13
Deletion
 1
 
13
Duplication
 1
 
13
Deletion
 1
 
13
Deletion
 1
 
13
N/A
 1
 
13
Duplication
 1
 
13
Deletion-Duplication
 2
 
13
Deletion
 2
 
13
Deletion-Duplication
 4
 
13
Deletion
 4
 
13
Deletion-Duplication
 2
 
13
Deletion
 6
 
13
Deletion-Duplication
 4
 
13
Deletion-Duplication
 4
 
13
Deletion-Duplication
 26
 

No Animal Model Data Available

 

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