A novel PAX9 mutation causing oligodontia. (December 2017)

• Record Type: Journal Article
• Authors: Daw, Eiman Mohammed; Saliba, Christian; Grech, Godfrey; Camilleri, Simon
• Is Part Of: Archives of oral biology. Volume 84(2017)
• Page Start: 100
• Page End: 105
• Publication Date: 2017-12
• Subjects: Family -- Oligodontia -- Hypodontia -- Mutation -- PAX9 -- MSX1; Mouth -- Periodicals; Mouth -- Diseases -- Periodicals; Dentistry -- Periodicals; Electronic journals; 617.6005
• DOI: 10.1016/j.archoralbio.2017.09.018
• Languages: English
• ISSNs: 0003-9969

Abstract

Highlights: An extended family exhibiting both hypodontia and oligodontia is described. Mutations were found in MSX1 and PAX9 genes. The PAX9 mutation is novel and associated solely with the oligodontia phenotype. Abstract: Introduction: An extended family presenting with several members affected by developmentally missing teeth was investigated by analysis of the MSX1 and PAX9 genes. Materials and methods: Saliva samples were collected and DNA extracted. Primers were designed to span the exons and intron-exon junctions of the MSX1 and PAX9 genes. These primers were optimised using gradient Polymerase Chain Reaction. The amplified fragments were sent for Sanger sequencing Results: a novel heterozygote missense mutation in exon 3 of PAX9 (c.296G > C, p.A99P), was found in two severely affected members of the family as well as a potentially pathogenic heterozygote variant (c.119C > G, p.A40G) in exon 1 of the MSX1 gene. Conclusion: The PAX9 A99P mutation is in the DNA binding domain and is predicted to be pathogenic.