Novel ITGB6 variants cause hypoplastic-hypomineralized amelogenesis imperfecta and taurodontism: characterization of tooth phenotype and review of literature.

ABSTRACT:

Objectives

To characterize phenotype and genotype of amelogenesis imperfecta (AI) in a Thai patient, and review of literature.

Materials and methods

Variants were identified using trio-exome and Sanger sequencing. The ITGB6 protein level in patient's gingival cells was measured. The patient's deciduous first molar was investigated for surface roughness, mineral density, microhardness, mineral composition, and ultrastructure.

Results

The patient exhibited hypoplastic-hypomineralized AI, taurodontism, and periodontal inflammation. Exome sequencing identified the novel compound heterozygous ITGB6 mutation, a nonsense c.625 G > T, p.(Gly209*) inherited from mother and a splicing c.1661-3 C > G from father, indicating AI type IH. The ITGB6 level in patient cells was signif

SUBMITTER: Sriwattanapong K 

PROVIDER: S-EPMC10090198 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature