A novel ODAPH mutation causing amelogenesis imperfecta and its expression in human dental tissues.

ABSTRACT:

Background/purpose

Amelogenesis imperfecta (AI), an assemblage of genetic diseases with dental enamel malformations, is generally grouped into hypoplastic, hypomaturation, and hypocalcified types. This study aimed to identify the genetic etiology for a consanguineous Iranian family with autosomal recessive hypocalcified AI.

Materials and methods

Dental defects were characterized, and whole exome analysis conducted to search for disease-causing mutations. Minigene assay and RT-PCR were performed to evaluate molecular consequences of the identified mutation and expression of the causative gene in human dental tissues.

Results

The defective enamel of erupted teeth showed extensive post-eruptive failure and discoloration. Partial enamel hypoplasia and indistinct dentino-e

SUBMITTER: Wang SK 

PROVIDER: S-EPMC10829723 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature