Novel frameshift variant of WNT10A in a Japanese patient with hypodontia

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

doi:10.1038/s41439-023-00259-4

Novel frameshift variant of WNT10A in a Japanese patient with hypodontia

Hum Genome Var. 2024 Jan 23;11(1):5. doi: 10.1038/s41439-023-00259-4.

Authors

Michiyo Ando^{1

2}, Yoshihiko Aoki^{2

3}, Yasuto Sano^{1

2}, Junya Adachi^{2

4}, Masatoshi Sana⁵, Satoru Miyabe¹, Satoshi Watanabe¹, Shogo Hasegawa¹, Hitoshi Miyachi¹, Junichiro Machida^{1

6}, Mitsuo Goto¹, Yoshihito Tokita^{7

8}

Affiliations

¹ Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan.
² Department of Disease Model, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.
³ Department of Oral and Maxillofacial Surgery, Okazaki Municipal Hospital, Okazaki, Japan.
⁴ Department of Oral and Maxillofacial Surgery, Toyohashi Municipal Hospital, Toyohashi, Japan.
⁵ Nagoya Orthodontic Clinic, Nagoya, Japan.
⁶ Department of Oral and Maxillofacial Surgery, Toyota Memorial Hospital, Toyota, Japan.
⁷ Department of Maxillofacial Surgery, School of Dentistry, Aichi-Gakuin University, Nagoya, Japan. [email protected].
⁸ Department of Disease Model, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan. [email protected].

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.

Abstract

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