DLX2

• Haploinsufficiency score: 0
• Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

There is one association study linking 2 SNPs in or near the DLX2 gene to autism. One of the SNPs was replicated in 3 independent samples within this study. However, this SNP is 807 bp downstream of the gene. The other SNP is in the 5'UTR [Liu et al (2009) PMID: 18728693]. Thiesen et al. evaluated 14 individuals with deletions of the 2q31.1 region in an attempt to define the genes associated with split hand and foot malformation. They concluded that the absence of hand/foot anomalies in 5 individuals with deletions of DLX1/DLX2 but not the HOXD cluster supports the hypothesis that haploinsufficiency of the HOXD cluster, rather than DLX1/DLX2, accounts for the skeletal abnormalities in subjects with 2q31.1 microdeletions (PMID: 22140379).

• Triplosensitivity score: 0
• Strength of Evidence (disclaimer): No evidence for dosage pathogenicity