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Relevance to Autism

A de novo frameshift variant and two de novo missense variants in the RFX7 gene have been identified in ASD probands from the Autism Sequencing Consortium and the Simons Simplex Collection (De Rubeis et al., 2014; Iossifov et al. 2014). Genetic and phenotypic characterization of individuals with potentially deleterious variants in three brain-expressed members of the RFX family (RFX3, RFX4, or RFX7) in Harris et al., 2021 identified 14 unrelated individuals with variants in the RFX7 gene; global developmental delay/intellectual disability and dysmorphic features were frequently observed in this cohort, and five individuals also presented with autism spectrum disorder.

Molecular Function

RFX7 is a member of the regulatory factor X (RFX) family of transcription factors.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Recent recommendation
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
DD, ID
ASD, ADHD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1236R001 
 frameshift_variant 
 c.1836dup 
 p.Ala613SerfsTer7 
 De novo 
 NA 
 Simplex 
 GEN1236R002 
 missense_variant 
 c.2596C>T 
 p.Pro866Ser 
 De novo 
 NA 
 Simplex 
 GEN1236R003 
 missense_variant 
 c.4358A>G 
 p.His1453Arg 
 De novo 
 NA 
 Simplex 
 GEN1236R004 
 frameshift_variant 
 c.3032del 
 p.Ser1011IlefsTer19 
 De novo 
 NA 
 Simplex 
 GEN1236R005 
 frameshift_variant 
 c.1399_1400del 
 p.Met467GlufsTer19 
 Unknown 
  
 Multiplex 
 GEN1236R006 
 stop_gained 
 c.2718C>A 
 p.Tyr906Ter 
 De novo 
 NA 
 Simplex 
 GEN1236R007 
 stop_gained 
 c.2225C>G 
 p.Ser742Ter 
 De novo 
 NA 
 Simplex 
 GEN1236R008 
 frameshift_variant 
 c.1822dup 
 p.Thr608AsnfsTer12 
 De novo 
 NA 
 Simplex 
 GEN1236R009 
 frameshift_variant 
 c.2707dup 
 p.Thr903AsnfsTer9 
 De novo 
 NA 
 Simplex 
 GEN1236R010 
 stop_gained 
 c.2718C>G 
 p.Tyr906Ter 
 De novo 
 NA 
 Simplex 
 GEN1236R011 
 stop_gained 
 c.2284G>T 
 p.Gly762Ter 
 De novo 
 NA 
 Simplex 
 GEN1236R012 
 missense_variant 
 c.3085A>G 
 p.Ile1029Val 
 De novo 
 NA 
 Simplex 
 GEN1236R013 
 missense_variant 
 c.3083C>T 
 p.Pro1028Leu 
 De novo 
 NA 
 Simplex 
 GEN1236R014 
 frameshift_variant 
 c.3080del 
 p.Thr1027IlefsTer3 
 De novo 
 NA 
 Simplex 
 GEN1236R015 
 stop_gained 
 c.2233G>T 
 p.Glu745Ter 
 De novo 
 NA 
 Simplex 
 GEN1236R016 
 frameshift_variant 
 c.2170_2171insTGTT 
 p.Trp724LeufsTer13 
 De novo 
 NA 
 Simplex 
 GEN1236R017 
 inframe_deletion 
 c.2859_2864del 
 p.Pro964_Thr965del 
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Deletion
 1
 
15
Duplication
 1
 
15
Deletion-Duplication
 18
 
15
Deletion
 6
 
15
Deletion
 1
 

No Animal Model Data Available

 

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