Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome.

ABSTRACT:

Objectives

Variants in DLX3 cause tricho-dento-osseous syndrome (TDO, MIM #190320), a systemic condition with hair, nail and bony changes, taurodontism and amelogenesis imperfecta (AI), inherited in an autosomal dominant fashion. Different variants found within this gene are associated with different phenotypic presentations. To date, six different DLX3 variants have been reported in TDO. The aim of this paper was to explore and discuss three recently uncovered new variants in DLX3.

Subjects and methods

Whole-exome sequencing identified a new DLX3 variant in one family, recruited as part of an ongoing study of genetic variants associated with AI. Targeted clinical exome sequencing of two further families revealed another new variant of DLX3 and complete heterozygous deletion

SUBMITTER: Whitehouse LLE 

PROVIDER: S-EPMC6334507 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature