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Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia
- Source :
- Human Genome Variation, Vol 10, Iss 1, Pp 1-3 (2023)
- Publication Year :
- 2023
- Publisher :
- Nature Publishing Group, 2023.
-
Abstract
- Abstract 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.
Details
- Language :
- English
- ISSN :
- 2054345X
- Volume :
- 10
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Human Genome Variation
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.48150a6d96f64c5aa4a341804a4d138c
- Document Type :
- article
- Full Text :
- https://doi.org/10.1038/s41439-023-00230-3