Novel frameshift variant of WNT10A in a Japanese patient with hypodontia.
Hum Genome Var
; 11(1): 5, 2024 Jan 23.
Article
em En
| MEDLINE
| ID: mdl-38263268
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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MEDLINE
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En
Ano de publicação:
2024
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Article