DLX1
Homo sapiens
Gene Name: distal-less homeobox 1
Aliases:
Chromosome No: 2
Chromosome Band: 2q31.1
Genetic Category: Genetic Association-Rare single gene variant
Aliases:
Chromosome No: 2
Chromosome Band: 2q31.1
Genetic Category: Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 9
Recent Reports: 4
Annotated variants: 5
Associated CNVs: 6
Evidence score: 2
ASD Reports: 9
Recent Reports: 4
Annotated variants: 5
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the DLX1 gene and autism in AGRE and ASD-CARC cohorts (Liu et al., 2009).
Molecular Function
The encoded protein is a homeobox transcription factor.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The DLX1and DLX2 genes and susceptibility to autism spectrum disorders.
ASD
Support
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
ASD
Speech delay
Highly Cited
Interneuron migration from basal forebrain to neocortex: dependence on Dlx genes.
Highly Cited
Mutations of the homeobox genes Dlx-1 and Dlx-2 disrupt the striatal subventricular zone and differentiation of late born striatal neurons.
Recent Recommendation
Generation of Cre-transgenic mice using Dlx1/Dlx2 enhancers and their characterization in GABAergic interneurons.
Recent Recommendation
Dlx1 and Dlx2 control neuronal versus oligodendroglial cell fate acquisition in the developing forebrain.
Recent Recommendation
Mice lacking Dlx1 show subtype-specific loss of interneurons, reduced inhibition and epilepsy.
Recent Recommendation
Dlx1&2 and Mash1 transcription factors control MGE and CGE patterning and differentiation through parallel and overlapping pathways.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN067C001
3_prime_UTR_variant
rs788172
c.*631G>A;c.*453G>A
A to G
AGRE, ASD-CARC
Discovery
GEN067C002
3_prime_UTR_variant
rs788173
c.*653G>A;c.*475G>A
A to G
AGRE, ASD-CARC
Discovery
GEN067C003
500B_downstream_variant
rs813720
c.*1934G>C;c.*1756G>C
C/G
AGRE, ASD-CARC
Discovery
