Aliases: AI4, TDO
Chromosome No: 17
Chromosome Band: 17q21.33
Genetic Category: Rare single gene variant-
ASD Reports: 4
Recent Reports: 1
Annotated variants: 7
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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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.
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