Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling.

ABSTRACT:

Objective

Dentinogenesis imperfecta (DI) is an inherited dentin defect and may be isolated or associated with disorders such as osteogenesis imperfecta, odontochondrodysplasia Ehler-Danlos and others. Isolated DI is caused mainly by pathogenic variants in DSPP gene and around 50 different variants have been described in this gene. Herein, we report on 19 patients from two unrelated Egyptian families with isolated DI. Additionally, we focused on genetic counselling of the two families.

Materials and methods

The patients were examined clinically and dentally. Panoramic X-rays were done to some patients. Whole exome sequencing (WES) and Sanger sequencing were used.

Results

WES revealed two new nonsense variants in DSPP gene, c.288T > A (p.Tyr96Ter) and c.255G > A (p.Trp8

SUBMITTER: Hassib NF 

PROVIDER: S-EPMC11024031 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature