Phenotype and molecular characterizations of a family with dentinogenesis imperfecta shields type II with a novel DSPP mutation.

ABSTRACT:

Background

Dentinogenesis imperfecta (DGI), Shields type-II is an autosomal dominant genetic disease which severely affects the function of the patients' teeth. The dentin sialophosphoprotein (DSPP) gene is considered to be the pathogenic gene of DGI-II. In this study, a DGI-II family with a novel DSPP mutation were collected, functional characteristics of DGI cells and clinical features were analyzed to better understand the genotype-phenotype relationship of this disease.

Methods

Clinical data were collected, whole exome sequencing (WES) was conducted, and Sanger sequencing was used to verify the mutation sites. Physical characteristics of the patient's teeth were examined using scanning electron microscopy (SEM) and energy dispersive spectroscopy (EDS). The localiz

SUBMITTER: Du Q 

PROVIDER: S-EPMC8667123 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature