Oral Rehabilitation of a Young Adult with Amelogenesis Imperfecta: A Clinical Report

This clinical report describes a multidisciplinary approach for the oral rehabilitation of a young adult patient diagnosed with hypoplastic amelogenesis imperfecta with a skeletal Class III malocclusion. The specific objectives of this treatment were to eliminate tooth sensitivity while enhancing esthetics and restoring masticatory function. The reverse horizontal overlap of posterior teeth was maintained. Treatment included removal of few teeth, lengthening of the maxillary and mandibular clinical crowns, and placement of anterior and posterior metal-ceramic fixed partial dentures. The third month recall examination revealed no pathology associated with the rehabilitation, and the patient’s esthetic and functional expectations were satisfied

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta

The conventional approach to identifying the defective gene in a family with an inherited disease is to find the disease locus through family studies. However, the rapid development and decreasing cost of next generation sequencing facilitates a more direct approach. Here, we report the identification of a frameshift mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta (AI). Whole-exome sequencing of three affected family members and subsequent filtering of shared variants, without prior genetic linkage, sufficed to identify the pathogenic variant. Simultaneous analysis of multiple family members confirms segregation, enhancing the power to filter the genetic variation found and leading to rapid identification of the pathogenic variant. LAMB3 encodes a subunit of Laminin-5, one of a family of basement membrane proteins with essential functions in cell growth, movement and adhesion. Homozygous LAMB3 mutations cause junctional epidermolysis bullosa (JEB) and enamel defects are seen in JEB cases. However, to our knowledge, this is the first report of dominant AI due to a LAMB3 mutation in the absence of JEB