Summary Statistics:
Gene Score: 4
Relevance to Autism
Five case-specific loss-of-function variants were identified in the DST gene following the sequencing of 215 synaptic genes in 147 cases with ASD, 273 cases with schizophrenia, and 287 controls (Kenny et al., 2013).
Molecular Function
Cytoskeletal linker protein that acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Isoform 7 regulates the organization and stability of the microtubule network of sensory neurons to allow axonal transport. Defects in this gene are associated with hereditary sensory and autonomic neuropathy 6 (HSAN6) [MIM:614653], a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities.
References
Primary
Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders.
ASD, SCZ
Support
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
ASD
Support
Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder
ASD
Support
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
TS
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Integrating de novo and inherited variants in 42
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.
ASD
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
GEN581R001
frameshift_variant
TA>T
Unknown
Unknown
GEN581R002
stop_gained
c.5184+2751C>T
Unknown
Unknown
GEN581R003
splice_site_variant
c.4831-2A>G
Unknown
Unknown
GEN581R004
splice_site_variant
c.6048+1>AG
p.?
Unknown
Unknown
GEN581R005
stop_gained
c.5662G>T
p.Ala1888Ser
Unknown
Unknown
GEN581R006
missense_variant
c.9776A>G
p.Glu3259Gly
De novo
Unknown
GEN581R007
missense_variant
c.7538T>C
p.Leu2513Ser
De novo
Unknown
GEN581R008
frameshift_variant
11319+AAAC(delGTTT)
3773-!
De novo
Simplex
GEN581R009
missense_variant
c.13296A>T
p.Glu4432Asp
De novo
Simplex
GEN581R010
inframe_indel
c.512_513insCACCATCGC
p.Pro171_Ala172insThrIleAla
De novo
Simplex
GEN581R011
missense_variant
c.13823G>T
p.Gly4608Val
De novo
Simplex
GEN581R012
stop_gained
c.10954C>T
p.Gln3652Ter
Familial
Maternal
Multiplex
GEN581R013
frameshift_variant
c.1680-263del
Familial
Paternal
Multiplex
GEN581R014
missense_variant
c.13564C>A
p.His4522Asn
De novo
Simplex
GEN581R015
synonymous_variant
c.13347C>T
p.Ala4449=
De novo
GEN581R016
missense_variant
c.10815G>C
p.Glu3605Asp
De novo
GEN581R017
missense_variant
c.10705C>T
p.Arg3569Trp
De novo
GEN581R018
synonymous_variant
c.9213G>A
p.Arg3071=
De novo
GEN581R019
intron_variant
c.4830+4687G>A
De novo
GEN581R020
intron_variant
c.4830+4279A>G
De novo
GEN581R021
intron_variant
c.5184+4468C>T
De novo
Multiplex
GEN581R022
intron_variant
c.3865-153G>A
De novo
Multiplex
GEN581R023
missense_variant
c.236G>A
p.Arg79Gln
De novo
Simplex
GEN581R024
synonymous_variant
c.12975A>G
p.Leu4325=
De novo
GEN581R025
synonymous_variant
c.4131A>G
p.Glu1377=
De novo
GEN581R026
missense_variant
c.3086C>T
p.Thr1029Ile
De novo
GEN581R027
frameshift_variant
c.1779-264del
Familial
Paternal
Multiplex
GEN581R028a
missense_variant
c.5909T>C
p.Phe1970Ser
Familial
GEN581R028b
missense_variant
c.3130A>G
p.Met1044Val
Familial
GEN581R029a
missense_variant
c.11924A>G
p.Asp3975Gly
Familial
GEN581R029b
missense_variant
c.7534G>C
p.Gly2512Arg
Familial
GEN581R030a
missense_variant
c.12220C>T
p.Arg4074Cys
Familial
GEN581R030b
missense_variant
c.772C>T
p.Pro258Ser
Familial
No Common Variants Available
6
Deletion-Duplication
16
No Interactions Available
