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Relevance to Autism

Rare mutations in the AFF2 gene have been identified with autism and ADHD (Abrams et al., 1997) as well as with X-linked intellectual disability (XLID) (Stettner et al., 2011) and developmental and speech delay (Sahoo et al., 2011). In addition, this gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, a rare mutation in the AFF2 gene has been identified with fragile X syndrome (Moore et al., 1999).

Molecular Function

This gene encodes a putative transcriptional activator that is a member of the AF4FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked mental retardation. Alternate splicing results in multiple transcript variants.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Cognitive, behavioral, and neuroanatomical assessment of two unrelated male children expressing FRAXE.
ASD
ADHD
Support
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
ASD
Support
Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.
XLID
Support
Using whole-exome sequencing to identify inherited causes of autism.
ASD
Support
Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder
ASD
Support
Fragile X syndrome with FMR1 and FMR2 deletion.
Fragile X syndrome
MR, Epilepsy
Support
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
ASD
Support
Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder.
ASD
DD/ID
Support
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
ASD
ID
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
Support
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
ID
Epilepsy, ASD
Support
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.
DD, ID, epilepsy/seizures
Support
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
ASD
Support
Autism spectrum disorder: FRAXE mutation, a rare etiology.
ASD
Support
Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.
DD
Recent Recommendation
Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN289R001 
 trinucleotide_repeat_microsatellite_feature 
 c.-460_-458GCC(6_25) 
  
 Familial 
 Maternal 
 Simplex 
 GEN289R002 
 trinucleotide_repeat_microsatellite_feature 
 c.-460_-458GCC(6_25) 
  
 Familial 
 Maternal 
 Simplex 
 GEN289R003 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN289R004 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multi-generational 
 GEN289R005 
 copy_number_loss 
  
  
 Familial 
 Maternal 
  
 GEN289R006 
 copy_number_loss 
  
  
  
  
  
 GEN289R007 
 missense_variant 
 c.2539C>G 
 p.Pro847Ala 
 Familial 
 Maternal 
 Multiplex 
 GEN289R008 
 missense_variant 
 c.2140G>A 
 p.Asp714Asn 
 Familial 
 Maternal 
 Multiplex 
 GEN289R009 
 missense_variant 
 c.2780G>A 
 p.Arg927His 
 Familial 
 Maternal 
 Multiplex 
 GEN289R010 
 missense_variant 
 c.1979G>C 
 p.Ser660Thr 
 Familial 
 Maternal 
 Simplex 
 GEN289R011 
 missense_variant 
 c.2509C>T 
 p.Arg837Cys 
 Familial 
 Maternal 
 Simplex 
 GEN289R012 
 missense_variant 
 c.3088A>C 
 p.Ile1030Leu 
 De novo 
 NA 
 Simplex 
 GEN289R013 
 3_prime_UTR_variant 
 c.*2338T>C 
  
 Unknown 
  
 Multiplex 
 GEN289R014 
 3_prime_UTR_variant 
 c.*2942T>A 
  
 Unknown 
  
 Multiplex 
 GEN289R015 
 3_prime_UTR_variant 
 c.*3206C>T 
  
 Unknown 
  
 Multiplex 
 GEN289R016 
 synonymous_variant 
 c.1962T>C 
 p.Thr654= 
 Unknown 
  
 Simplex 
 GEN289R017 
 synonymous_variant 
 c.1017C>T 
 p.Leu339= 
 Unknown 
  
 Simplex 
 GEN289R018 
 synonymous_variant 
 c.1072C>A 
 p.Arg358= 
 Unknown 
  
 Multiplex 
 GEN289R019 
 synonymous_variant 
 c.1323C>G 
 p.Thr441= 
 Unknown 
  
 Multiplex 
 GEN289R020 
 intron_variant 
 c.168+508T>C 
  
 Unknown 
  
 Multiplex 
 GEN289R021 
 intron_variant 
 c.1074+4192A>G 
  
 Unknown 
  
 Multiplex 
 GEN289R022 
 intron_variant 
 c.1074+4824A>G 
  
 Unknown 
  
 Multiplex 
 GEN289R023 
 intron_variant 
 c.3466-382C>T 
  
 Unknown 
  
 Multiplex 
 GEN289R024 
 intron_variant 
 c.3518+343T>G 
  
 Unknown 
  
 Multiplex 
 GEN289R025 
 3_prime_UTR_variant 
 c.*8999G>C 
  
 Unknown 
  
 Multiplex 
 GEN289R026 
 missense_variant 
 c.2458C>T 
 p.His820Tyr 
 Familial 
 Maternal 
 Simplex 
 GEN289R027 
 missense_variant 
 c.2780G>A 
 p.Arg927His 
 Unknown 
  
 Simplex 
 GEN289R028 
 missense_variant 
 c.3634G>A 
 p.Val1212Ile 
 Familial 
 Maternal 
 Multi-generational 
 GEN289R029 
 trinucleotide_repeat_microsatellite_feature 
 c.-460_-458GCC(6_25) 
  
 Familial 
 Maternal 
 Simplex 
 GEN289R030 
 stop_gained 
 c.835C>T 
 p.Gln279Ter 
 Unknown 
  
 Unknown 
 GEN289R031 
 missense_variant 
 c.1640G>A 
 p.Gly547Asp 
 Familial 
 Maternal 
 Multiplex 
 GEN289R032a 
 frameshift_variant 
 c.511dup 
 p.Ser171LysfsTer28 
 Familial 
 Maternal 
 Simplex 
 GEN289R032b 
 frameshift_variant 
 c.527_528del 
 p.Gly176AlafsTer26 
 Familial 
 Maternal 
 Simplex 
 GEN289R033 
 missense_variant 
 c.2509C>T 
 p.Arg837Cys 
 Familial 
 Maternal 
 Simplex 
 GEN289R034 
 frameshift_variant 
 c.2483dup 
 p.Glu829ArgfsTer5 
 Familial 
 Maternal 
 Simplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN289C001 
 intron_variant 
 rs193241784 
 c.1074+4388T>A;c.1086+4388T>A;c.96+4388T>A 
  
 202 ASD cases from AGRE and SSC; controls from NIMH and EVS. 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion-Duplication
 18
 
X
Deletion
 2
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 1
 
X
Deletion
 2
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 7
 
X
Deletion-Duplication
 65
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
Grasp GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein 192254 Q8R4T5 Y2H
Kitano J , et al. 2003
Siah1a E3 ubiquitin-protein ligase SIAH1A 20437 P61092 Y2H; in situ hybridization; Peptide affinity chromatography; M2 affinity gel assay; IP/WB
Oliver PL , et al. 2004

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