A novel PITX2 mutation in non‐syndromic orodental anomalies

Abstract

This study for the first time demonstrates that the PITX2 mutation could lead to non-syndromic orodental anomalies in humans. We propose that the specific location in the C-terminal domain of PITX2 is exclusively necessary for tooth development.

Mutation analysis in patients with nonsyndromic tooth agenesis using exome sequencing

“…In humans, PITX2 mutants are generally associated with ARS, which manly affects the development of the eyes, teeth and abdomen (Vieira et al, 2006). Notably, for the first time, a frameshift deletion, c.573_574delCA (p.L193QfsX5) in PITX2 was found to cause nonsyndromic dental anomalies in humans (Intarak et al, 2018). Interestingly, our study revealed a previously reported PITX2 nonsense mutation (Y121X), which was identified in patients with ARS (Vieira et al, 2006), that is NM_000325:c.522C > G (p.Y174*) in our study, was found to be related to nonsyndromic TA in family 8.…”

Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs

“…We detected the expression of KMT2D and KDM6A in dental epithelium at early stages of human tooth development suggesting their roles in odontogenesis . The mutations of genes exclusively expressed in embryonic dental epithelium have been shown to cause tooth agenesis 29 - 31 . The majority of our mutations observed were truncating mutations 19 - 23 .…”

Precision medicine in Thailand

“…Patients consulted for diagnosis by NGS are from all specialties, including neurologists (Veeravigrom et al, ), dentists (Intarak, Theerapanon, Ittiwut, et al, ; Nowwarote et al, ; Porntaveetus, Nowwarote, et al, b; Porntaveetus, Osathanon, et al, ), orthopedists, endocrinologists (Sangsin, Srichomthong, Pongpanich, Suphapeetiporn, & Shotelersuk, , ), hematologists (Ittiwut et al, ; Ittiwut et al, ), dermatologists (Intarak, Theerapanon, Srijunbarl, et al, ; Panmontha et al, ; Panmontha et al, ), immunologists (Suratannon et al, ), syndromologists (Porntaveetus, Abid, et al, ; Porntaveetus, Srichomthong, Ohazama, Suphapeetiporn, & Shotelersuk, ; Porntaveetus, Theerapanon, Srichomthong, & Shotelersuk, ), biochemical geneticists (Chaiyasap et al, ; Phowthongkum, Ittiwut, & Shotelersuk, ; Porntaveetus, Srichomthong, Suphapeetiporn, & Shotelersuk, ), oncologists (Sahakitrungruang et al, ), and radiologists (Yeetong, Phewplung, Kamolvisit, Suphapeetiporn, & Shotelersuk, ). We have observed a wide range of yields depending on disease groups, recruitment criteria and, very importantly the cooperation of the clinicians and the bioinformaticians.…”