title: Identification of a novel mutation in the PAX9 gene in a family affected by oligodontia and other dental anomalies.
abstract: The objective of the present work was to study the phenotype and the genotype of three generations of a family affected by oligodontia and other dental anomalies. These family members also presented systemic conditions such as hypercholesterolemia, hypothyroidism, diabetes mellitus, scoliosis, and congenital cardiovascular anomalies. Clinical evaluation, panoramic radiographs, and anamnestic data were used for dental analysis. DNA extraction was carried out from gum samples or buccal swabs. A mutation was identified in six subjects across three generations affected by oligodontia, as well as different phenotypical manifestations, both systemic and oral. The previously undescribed PAX9 mutation was observed in the paired box (exon 2); this was a heterozygote transition of C175 to T, implying the change of arginine 59 for a termination codon. These results strongly suggested that the identified mutation was the etiological cause of the oligodontia. However, in two family members affected by both hypodontia and peg-shaped upper lateral incisors, no mutations in the PAX9 and MSX1 genes were identified. This fact underscores the importance that other presently unknown genes and developmental factors have in tooth development and in the etiology of dental anomalies.
authors.affiliation: Human Anatomy and Embryology Unit, Campus de Bellvitge, Barcelona University, Barcelona, Spain. vtallon@ub.edu
authors.forename: Victòria
authors.initials: V
authors.lastname: Tallón-Walton
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Manzanares-Céspedes
authors.forename: Sirpa
authors.initials: S
authors.lastname: Arte
authors.forename: Patricia
authors.initials: P
authors.lastname: Carvalho-Lobato
authors.forename: Ivan
authors.initials: I
authors.lastname: Valdivia-Gandur
authors.forename: Antonio
authors.initials: A
authors.lastname: Garcia-Susperregui
authors.forename: Francesc
authors.initials: F
authors.lastname: Ventura
authors.forename: Pekka
authors.initials: P
authors.lastname: Nieminen
mesh_terms: D000328:Adult; D000368:Aged; D000848:Anodontia / Q000150:complications / Q000235:genetics; D018376:Cardiovascular Abnormalities / Q000150:complications / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons / Q000235:genetics; D005190:Family; D005260:Female; D005838:Genotype; D006801:Humans; D006937:Hypercholesterolemia / Q000150:complications / Q000235:genetics; D006980:Hyperthyroidism / Q000150:complications / Q000235:genetics; D008297:Male; D051764:PAX9 Transcription Factor / Q000235:genetics*; D010641:Phenotype; D014071:Tooth Abnormalities / Q000235:genetics*
chemical_list: D051764:PAX9 Transcription Factor; C497323:PAX9 protein, human