DLX3distal-less homeobox 3
Autism Reports / Total Reports1 / 2
Rare Variants / Common Variants2 / 0
AliasesDLX3, AI4, TDO
Genetic CategoryRare Single Gene Mutation
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).
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)|
No common variants reported.
CNVs associated with DLX3(1 CNVs)
|17q21.33||7||Deletion-Duplication||12 / 17|