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Relevance to Autism

Rare mutations in the DCX gene have been identified in individuals with a form of X-linked lissencephaly (LISX1; OMIM 300067) (des Portes et al., 1998; Gleeson et al., 1998; Pilz et al., 1998). However, Vourc'h et al., 2002 identified no rare mutations in the coding region of the DCX gene in a cohort of 59 patients with autism.

Molecular Function

This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exclusion of the coding sequence of the doublecortin gene as a susceptibility locus in autistic disorder.
ASD
Positive Association
De novo mutations in epileptic encephalopathies.
Epilepsy
IS, LGS, DD, ID, ASD, ADHD
Support
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
ASD
Support
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study
DD, epilepsy/seizures
Support
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
DD, ID
Autistic features
Support
Neurogenetic analysis of childhood disintegrative disorder.
Childhood disintegrative disorder
Highly Cited
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
LIS
Highly Cited
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
X-linked lissencephaly-1
Highly Cited
A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.
X-linked lissencephaly-1
Recent Recommendation
The DC-module of doublecortin: dynamics, domain boundaries, and functional implications.
Recent Recommendation
The evolving doublecortin (DCX) superfamily.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN061R001 
 missense_variant 
 c.128T>C 
 p.Phe43Ser 
 De novo 
 NA 
  
 GEN061R002 
 missense_variant 
 c.304C>A 
 p.Arg102Ser 
 De novo 
 NA 
  
 GEN061R003 
 splice_site_variant 
 G>A 
 p.? 
 De novo 
 NA 
  
 GEN061R004 
 stop_gained 
 c.907C>T 
 p.Arg303Ter 
  
  
  
 GEN061R005 
 stop_gained 
 c.907C>T 
 p.Arg303Ter 
  
  
  
 GEN061R006 
 missense_variant 
 c.158A>G 
 p.Glu53Gly 
 Familial 
 Maternal 
 Multiplex 
 GEN061R007 
 stop_gained 
 c.946C>T 
 p.Gln316Ter 
 De novo 
 NA 
  
 GEN061R008 
 missense_variant 
 c.151A>G 
 p.Met51Val 
 Familial 
 Maternal 
 Multiplex 
 GEN061R009 
 missense_variant 
 c.299G>A 
 p.Gly100Glu 
 Familial 
 Maternal 
 Unknown 
 GEN061R010 
 missense_variant 
 c.910G>A 
 p.Gly304Arg 
 Unknown 
  
  
 GEN061R011 
 missense_variant 
 c.854C>A 
 p.Ala285Asp 
 Unknown 
  
  

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
Duplication
 1
 
X
Duplication
 1
 
X
Deletion-Duplication
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 16
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
AGTR1 angiotensin II receptor, type 1 185 P30556 IP; LC-MS/MS
Huttlin EL , et al. 2015
C14ORF104 Protein kintoun 55172 Q9NVR5-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
CUL1 cullin 1 8454 Q13616 IP; LC-MS/MS
Huttlin EL , et al. 2015
DGUOK deoxyguanosine kinase 1716 E5KSL5 IP; LC-MS/MS
Huttlin EL , et al. 2015
DIS3 DIS3 mitotic control homolog (S. cerevisiae) 22894 Q9Y2L1 IP; LC-MS/MS
Huttlin EL , et al. 2015
DPF3 D4, zinc and double PHD fingers, family 3 8110 Q92784 IP; LC-MS/MS
Huttlin EL , et al. 2015
HAX1 HCLS1 associated protein X-1 10456 O00165 IP; LC-MS/MS
Huttlin EL , et al. 2015
KIF1A kinesin family member 1A 547 Q12756 in vitro binding assay; IP/WB; Cryo-electron microscopy
Liu JS , et al. 2012
LGALS9C Galectin-9C 654346 Q6DKI2 IP; LC-MS/MS
Huttlin EL , et al. 2015
MTERFD3 Transcription termination factor 2, mitochondrial 80298 Q49AM1 IP; LC-MS/MS
Huttlin EL , et al. 2015
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 4705 O95299 IP; LC-MS/MS
Huttlin EL , et al. 2015
NMNAT3 Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 349565 Q96T66-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
NUFIP1 Nuclear FMRP Interacting Protein 1 26747 Q9UHK0 IP; LC-MS/MS
Huttlin EL , et al. 2015
RGL4 Ral-GDS-related protein E7EPT8 IP; LC-MS/MS
Huttlin EL , et al. 2015
RNF13 E3 ubiquitin-protein ligase RNF13 11342 O43567 IP; LC-MS/MS
Huttlin EL , et al. 2015
Pax6 paired box gene 6 18508 P63015 ChIP-Seq
Grebbin BM , et al. 2016
Pbx1 pre B cell leukemia homeobox 1 18514 P41778 ChIP-Seq; Luciferase reporter assay
Grebbin BM , et al. 2016
Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 22627 P62259 IP/WB
Cornell B , et al. 2016

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