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Novel frameshift variant of WNT10A in a Japanese patient with hypodontia
- Source :
- Human Genome Variation, Vol 11, Iss 1, Pp 1-3 (2024)
- Publication Year :
- 2024
- Publisher :
- Nature Publishing Group, 2024.
-
Abstract
- Abstract Congenital tooth agenesis is caused by the impairment of crucial genes related to tooth development, such as Wnt signaling pathway genes. Here, we investigated the genetic causes of sporadic congenital tooth agenesis. Exome sequencing, followed by Sanger sequencing, identified a novel single-nucleotide deletion in WNT10A (NC_000002.12(NM_025216.3):c.802del), which was not found in the healthy parents of the patient. Thus, we concluded that the variant was the genetic cause of the patient’s agenesis.
Details
- Language :
- English
- ISSN :
- 2054345X
- Volume :
- 11
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Human Genome Variation
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.bb04e172da454fe8a6aabcbc33c0d29a
- Document Type :
- article
- Full Text :
- https://doi.org/10.1038/s41439-023-00259-4