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Relevance to Autism

A missense variant in NXF5 that resulted in skipping of exon 6 of the gene was detected in a female SCZ proband and 3 out of 5 other available affected individuals in a large Pakistani pedigree (Piton et al., 2012).

Molecular Function

Could be involved in the export of mRNA from the nucleus to the cytoplasm. Could also have a role in polarized cytoplasmic transport and localization of mRNA in neurons. A pericentric inversion inv(X)(p21.1;q22) that interrupts NXF5 has been observed in one patient with a syndromic form of mental retardation and short stature (Jun et al., 2001).

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.
ASD, SCZ
Support
Generation and characterization of an Nxf7 knockout mouse to study NXF5 deficiency in a patient with intellectual disability.
Support
Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients.
ID
ASD, epilepsy/seizures
Support
NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation.
ID

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN483R001 
 splice_site_variant 
 c.287A>G 
 p.Asn96Ser 
 Familial 
 Maternal 
 Multi-generational 
 GEN483R002 
 inversion 
  
  
  
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion-Duplication
 18
 
X
Deletion
 2
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Duplication
 2
 
X
Deletion
 1
 

No Animal Model Data Available

No PIN Data Available
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