Human Gene Module / Chromosome 17 / DLX3

DLX3distal-less homeobox 3

Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
1 / 2
Rare Variants / Common Variants
2 / 0
Associated Syndromes
Genetic Category
Rare Single Gene Mutation
Chromosome Band
Associated Disorders
Relevance to Autism

De novo missense variants in the DLX3 gene have been identified in two ASD probands (Iossifov et al., 2014). An integrated meta-analysis of de novo mutation data from a combined dataset of 10,927 individuals with neurodevelopmental disorders identified DLX3 as a gene with an excess of missense variants (false discovery rata < 5%, count >1); DLX3 was similarly identified as a gene with an excess of de novo missense variants (false discovery rata < 5%, count >1) following analysis of 5,624 cases with a primary diagnosis of ASD (Coe et al., 2018).

Molecular Function

Likely to play a regulatory role in the development of the ventral forebrain and may play a role in craniofacial patterning and morphogenesis. Trichodentoosseous syndrome (TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation.

Reports related to DLX3 (2 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary The contribution of de novo coding mutations to autism spectrum disorder. Iossifov I , et al. (2014) Yes -
2 Recent Recommendation Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. Coe BP , et al. (2018) No -
Rare Variants   (2)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.157G>A p.Gly53Ser missense_variant De novo - Simplex 25363768 Iossifov I , et al. (2014)
c.626C>T p.Ser209Leu missense_variant De novo - Simplex 25363768 Iossifov I , et al. (2014)
Common Variants  

No common variants reported.

CNVs associated with DLX3(1 CNVs)
17q21.33 7 Deletion-Duplication 12  /  17
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