In conclusion, we report here a family with multiple cases of DD individuals, and highlight NCAN as a putative novel DD susceptibility gene, which shares similar RNA expression profiles throughout multiple tissues within the human body with KIAA0319, CTNND2, CNTNAP2 and GRIN2B. The brain imaging data reported in the present study support that NCAN variants have effects on brain structure from infancy to early adulthood, but the possible associations between genotype, neuroimaging and phenotype remain to be addressed in future studies. This evidence concerns the gene CTNND2 and dentin dysplasia.