NOVEL DLX3 VARIANTS IN AMELOGENESIS IMPERFECTA WITH ATTENUATED TRICHO-DENTO-OSSEOUS SYNDROME

Background Variants in DLX3 cause tricho-dento-osseous syndrome (TDO; MIM accession no. 190320), a systemic condition with hair, nail, and bony changes, taurodontism, amelogenesis imperfecta (AI) inherited an autosomal dominant fashion. Different variants found within this gene are associated different phenotypic presentations. To date, 6 have been reported TDO. The aim of paper is to explore discuss 3 recently uncovered new their resulting phenotypes. Objective identify AI increase the accuracy genetic testing elucidate roles functions genes involved amelogenesis. In study, were identified as being AI. Methods Whole-exome sequencing variant one family recruited part ongoing study Targeted clinical exome 2 further families revealed another complete heterozygous deletion DLX3. For all families, phenotypes consisted together other attenuated features Conclusions c.574delG p.(E192Rfs*66), c.476G>T (p.R159L), entire coding region studied. These previously unreported add growing literature surrounding AI, allowing more accurate better understanding consequences.