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Relevance to Autism

Two consanguineous families presenting with neuromuscular disease and epileptic encephalopathy were found to carry damaging homozygous variants in the SCN10A gene in Kambouris et al., 2016; additional compound heterozygous missense variants in this gene were subsequently identified in individuals with epilepsy and autism spectrum disorder. A compound heterozygous missense variant in SCN10A was observed in all three ASD-affected siblings in a multiplex family in Dhaliwal et al., 2021. Heinrichs et al., 2021 identified an ASD proband with a compound heterozygous mutation in SCN10A; functional assessment of the SCN10A variants observed in this proband (p.Arg512Ter and p.Ile1511Met) demonstrated complete loss of channel function and enhanced slow channel inactivation, respectively. Furthermore, behavioral experiments in a Scn10a loss-of-function mouse model in Heinrichs et al., 2021 showed that mutant mice displayed increased self-grooming, reduced nest building, and altered social behavior.

Molecular Function

The protein encoded by this gene is a tetrodotoxin-resistant voltage-gated sodium channel alpha subunit. The properties of the channel formed by the encoded transmembrane protein can be altered by interaction with different beta subunits. This protein may be involved in the onset of pain associated with peripheral neuropathy.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy
Epilepsy/seizures
ASD, DD, ID
Support
Integrating de novo and inherited variants in 42
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings
ASD
Support
ASD
ADD, OCD, ID, epilepsy/seizures
Support
ASD
DD, ID
Recent Recommendation
The Potential Effect of Na v 1.8 in Autism Spectrum Disorder: Evidence From a Congenital Case With Compound Heterozygous SCN10A Mutations
ASD
DD, ID

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1263R001a 
 missense_variant 
 c.4514C>T 
 p.Thr1505Met 
 Familial 
 Both parents 
 Multiplex 
 GEN1263R002a 
 stop_gained 
 c.4735C>T 
 p.Arg1579Ter 
 Familial 
 Both parents 
 Simplex 
 GEN1263R003a 
 missense_variant 
 c.3482T>C 
 p.Met1161Thr 
 Familial 
  
 Simplex 
 GEN1263R003b 
 missense_variant 
 c.4709C>A 
 p.Thr1570Lys 
 Familial 
  
 Simplex 
 GEN1263R004a 
 missense_variant 
 c.4984G>A 
 p.Gly1662Ser 
 Unknown 
  
 Unknown 
 GEN1263R004b 
 missense_variant 
 c.1529C>T 
 p.Pro510Leu 
 Unknown 
  
 Unknown 
 GEN1263R005a 
 missense_variant 
 c.2842G>C 
 p.Val948Leu 
 Unknown 
  
 Unknown 
 GEN1263R005b 
 missense_variant 
 c.1453C>T 
 p.Arg485Cys 
 Unknown 
  
 Unknown 
 GEN1263R006a 
 missense_variant 
 c.4009T>A 
 p.Ser1337Thr 
 Unknown 
  
 Unknown 
 GEN1263R006b 
 missense_variant 
 c.1141A>G 
 p.Ile381Val 
 Unknown 
  
 Unknown 
 GEN1263R007a 
 missense_variant 
 c.2972C>T 
 p.Pro991Leu 
 Unknown 
  
 Unknown 
 GEN1263R007b 
 missense_variant 
 c.2470C>T 
 p.His824Tyr 
 Unknown 
  
 Unknown 
 GEN1263R008a 
 missense_variant 
 c.4009T>A 
 p.Ser1337Thr 
 Unknown 
  
 Unknown 
 GEN1263R008b 
 missense_variant 
 c.2052G>A 
 p.Met684Ile 
 Unknown 
  
 Unknown 
 GEN1263R009a 
 missense_variant 
 c.3425G>C 
 p.Arg1142Pro 
 Familial 
  
 Multiplex 
 GEN1263R009b 
 missense_variant 
 c.3542C>T 
 p.Thr1181Met 
 Familial 
  
 Multiplex 
 GEN1263R010a 
 stop_gained 
 c.1534G>A 
 p.Arg512Ter 
 Familial 
 Paternal 
 Simplex 
 GEN1263R010b 
 missense_variant 
 c.4533C>G 
 p.Ile1511Met 
 Familial 
 Maternal 
 Simplex 
 GEN1263R011 
 synonymous_variant 
 c.5781C>T 
 p.Gly1927%3D 
 Unknown 
  
  
 GEN1263R012 
 missense_variant 
 c.2527T>C 
 p.Phe843Leu 
 Unknown 
  
  
 GEN1263R013 
 missense_variant 
 c.5530A>G 
 p.Thr1844Ala 
 De novo 
  
  
 GEN1263R014 
 missense_variant 
 c.5294C>T 
 p.Ser1765Leu 
 De novo 
  
  
 GEN1263R015 
 missense_variant 
 c.5333C>A 
 p.Pro1778Gln 
 De novo 
  
 Simplex 
 GEN1263R016a 
 stop_gained 
 c.937G>T 
 p.Gly313Ter 
 Familial 
 Both parents 
 Simplex 
 GEN1263R017 
 stop_gained 
 c.5536C>T 
 p.Arg1846Ter 
 Familial 
 Paternal 
 Multiplex 
 GEN1263R018 
 stop_gained 
 c.4393C>T 
 p.Gln1465Ter 
 Familial 
 Paternal 
 Multiplex 
 GEN1263R019 
 missense_variant 
 c.4984G>A 
 p.Gly1662Ser 
 Familial 
 Maternal 
 Multiplex 
  et al.  
 GEN1263R020 
 inframe_deletion 
 c.1249_1251del 
 p.Lys417del 
 Familial 
  
 Multiplex 
  et al.  
 GEN1263R021 
 missense_variant 
 c.4984G>A 
 p.Gly1662Ser 
 Familial 
 Maternal 
 Extended multiplex 
  et al.  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Duplication
 1
 
3
Duplication
 1
 

No Animal Model Data Available

 

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