Faculty, Staff and Student Publications
Publication Date
1-1-2024
Journal
Journal of Dental Sciences
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-enamel junction were evident on unerupted teeth, resembling hypocalcified AI. A novel homozygous
CONCLUSION: Loss-of-function
Keywords
Dental enamelC4orf26Genetic mutationWhole exome sequencingTranscript variantDental pulp
DOI
10.1016/j.jds.2023.09.020
PMID
38303846
PMCID
PMC10829723
PubMedCentral® Posted Date
September 2023
PubMedCentral® Full Text Version
Post-print
Published Open-Access
yes