Identification of a novel mutation in the PAX9 gene in a family affected by oligodontia and other dental anomalies.

摘要: The objective of the present work was to study phenotype and genotype three generations a family affected by oligodontia other dental anomalies. These members also presented systemic conditions such as hypercholesterolemia, hypothyroidism, diabetes mellitus, scoliosis, congenital cardiovascular Clinical evaluation, panoramic radiographs, anamnestic data were used for analysis. DNA extraction carried out from gum samples or buccal swabs. A mutation identified in six subjects across oligodontia, well different phenotypical manifestations, both oral. previously undescribed PAX9 observed paired box (exon 2); this heterozygote transition C175 T, implying change arginine 59 termination codon. results strongly suggested that etiological cause oligodontia. However, two hypodontia peg-shaped upper lateral incisors, no mutations MSX1 genes identified. This fact underscores importance presently unknown developmental factors have tooth development etiology