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

Autor:	Ando, Michiyo, Aoki, Yoshihiko, Sano, Yasuto, Adachi, Junya, Sana, Masatoshi, Miyabe, Satoru, Watanabe, Satoshi, Hasegawa, Shogo, Miyachi, Hitoshi, Machida, Junichiro, Goto, Mitsuo, Tokita, Yoshihito
Předmět:	HYPODONTIA WNT signal transduction AGENESIS of corpus callosum DENTITION CELLULAR signal transduction GENETIC variation
Zdroj:	Human Genome Variation; 1/23/2024, Vol. 11 Issue 1, p1-3, 3p
Abstrakt:	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 FROM AUTHOR]
Databáze:	Complementary Index
Externí odkaz:	Zobrazit plný text záznamu Full text from SpringerLink