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Novel frameshift variant of WNT10A in a Japanese patient with hypodontia. | LitMetric

AI Article Synopsis

  • Congenital tooth agenesis results from issues in important genes linked to tooth development, particularly those in the Wnt signaling pathway.
  • Researchers used exome sequencing and Sanger sequencing to study the genetic reasons for sporadic congenital tooth agenesis.
  • They discovered a new single-nucleotide deletion in the WNT10A gene that wasn't present in the patient's healthy parents, confirming it as the genetic cause of the tooth agenesis.

Article 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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10806032PMC
http://dx.doi.org/10.1038/s41439-023-00259-4DOI Listing

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