Human Gene Module / Chromosome 17 / DLX3

DLX3distal-less homeobox 3

Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
1 / 2
Rare Variants / Common Variants
2 / 0
Aliases
DLX3, AI4,  TDO
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
17q21.33
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
Submit New Gene

Report an Error