Archives of oral biology · 2017
A novel PAX9 mutation causing oligodontia.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Daw Eiman Mohammed, Saliba Christian, Grech Godfrey, Camilleri Simon
Аннотация
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.
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.