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

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.

SUBMITTER: Ando M

PROVIDER: S-EPMC10806032 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature

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

Ando Michiyo M Aoki Yoshihiko Y Sano Yasuto Y Adachi Junya J Sana Masatoshi M Miyabe Satoru S Watanabe Satoshi S Hasegawa Shogo S Miyachi Hitoshi H Machida Junichiro J Goto Mitsuo M Tokita Yoshihito Y

Human genome variation 20240123 1

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 agene ...[more]

PMID: 38263268

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