Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta

Abstract

Amelogenesis imperfectas (AI) are a group of inherited defects of dental enamel formation that show both clinical and genetic heterogeneity. Seven Turkish families segregating autosomal recessive AI (ARAI) were evaluated for evidence of a genetic etiology of AI for the seven major candidate gene loci (AMBN, AMELX, ENAM, FAM83H, KLK4, MMP20, and TUFT1). Dental and periodontal characteristics of the affected members of these families were also described. The mean scores of DMFS and dfs indices were 9.7 and 9.6, respectively. The mean PPD was 2.2mm and the percentage of the sites with plaque and BOP were 87.8% and 72.4%, respectively. The exons and intron/exon junctions of the candidate genes were sequenced and no gene mutations were identified in any individuals. These findings support the existence of an additional gene(s) that are etiologic for ARAI in these families.

Radiographic evaluation of craniofacial structures associated with amelogenesis imperfecta in a Turkish population: a controlled trial study

“…Ellis et al [25] defined skeletal open bite as increased gonial and mandibular plane angles in comparison with a control group with Class II malocclusions. According to these diagnostic variables for skeletal open bite and in agreement with previous studies, our findings suggest that the open-bite malocclusion in our AI patients was skeletal in origin [2,4,18,19,21].…”

“…Similarly, our study identified openbite malocclusion in 35% of the AI population. Becerik et al [4] recently reported anterior open bite in five of ten (50%) Turkish patients with autosomal-recessive AI. Ravassipour et al [2] noted that 42% of the AI population had dental and/or skeletal open-bite malocclusion.…”

“…In the last decade, mode of inheritance and underlying genomic change have been recognized as important discriminators that may allow better classification of AI [3]. To date, mutations in five genes (AMELX, ENAM, FAM83H, KLK4, MMP20) have been identified as etiological factors for AI in humans [2,4,15,16].…”

“…This condition is genetic in origin and may be associated with morphological or biochemical changes elsewhere in the body [1,2]. AI is a developmental condition of the dental enamel (characterized by hypoplasia and/or hypomineralization) that may be transmitted in autosomal-dominant, autosomal-recessive, and X-linked modes [3,4]. It may present in isolation or be associated with other features or syndromes.…”

Protein-mediated Enamel Mineralization

“…Their studies indicated that additional genes are responsible for a significant number of cases of ARAI in the Turkish population (194). …”