Missense Mutation in Fam83H Gene in Iranian Patients with Amelogenesis Imperfecta.

ABSTRACT:

Background

Amelogenesis Imperfecta (AI) is a disorder of tooth development where there is an abnormal formation of enamel or the external layer of teeth. The aim of this study was to screen mutations in the four most important candidate genes, ENAM, KLK4, MMP20 and FAM83H responsible for amelogenesis imperfect.

Methods

Geneomic DNA was isolated from five Iranian families with 22 members affected with enamel malformations. The PCR amplifications were typically carried out for amplification the coding regions for AI patients and unaffected family members. The PCR products were subjected to direct sequencing. The pedigree analysis was performed using Cyrillic software.

Results

One family had four affected members with autosomal dominant hypocalcified amelogenesis imperfe

SUBMITTER: Pourhashemi SJ 

PROVIDER: S-EPMC4499090 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature