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Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia.

Junya AdachiYoshihiko AokiHiroto IzumiTakeshi NishiyamaAtsuo NakayamaMasatoshi SanaKyoko MorimotoAtsuo KaetsuTakamasa ShirozuEriko OsumiMichiko MatsuokaEri HayakawaNasel MaedaJunichiro MachidaToru NagaoYoshihito Tokita
Published in: Human genome variation (2023)
Congenital tooth agenesis is one of the most common anomalies in humans. Many genetic factors are involved in tooth development, including MSX1, PAX9, WNT10A, and LRP6. Thus, mutations in these genes can cause congenital tooth agenesis in humans. In this study, we identified a novel nonsense WNT10A variant, NM_025216.3(WNT10A_v001):c.1090A > T, which produces a C-terminal truncated gene product, p.(Lys364*), in a sporadic form of congenital tooth agenesis. The variant was not found in the healthy parents and thus was considered to cause congenital tooth agenesis in the case.
Keyphrases
  • cell proliferation
  • stem cells
  • genome wide
  • copy number
  • photodynamic therapy
  • early onset