A Novel Mutation of PTCHD3 Identified in a Chinese Family with Basal Cell Nevus Syndrome-associated Odontogenic Keratocysts.

Si Yi Zhou; Zi Yu Zhu; Ke Jie Lu; Jian Lu Kong; Tian Yi Gu; Lixuen Siow; Ying Qian; Chao Ying Zhang; Si Yu Wang; Takseng Hong; Jia Xing Gong; Hui Zhu; Meng Fei Yu; Hui Ming Wang

doi:10.3290/j.cjdr.b6953776

March 18, 2026

A Novel Mutation of PTCHD3 Identified in a Chinese Family with Basal Cell Nevus Syndrome-associated Odontogenic Keratocysts.

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Key Points

To identify the pathogenic mutation of PTCHD3 in patients with Basal Cell Nevus Syndrome (BCNS) and its implications.
Genetic sequencing of PTCHD3 in affected family members
Clinical assessment of odontogenic keratocysts
Analysis of the Hedgehog signalling pathway involvement
Discovery of a novel pathogenic mutation in PTCHD3
Confirmation of its association with BCNS-related odontogenic keratocysts
Implication of PTCHD3 as a potential therapeutic target

Implication

Finds a novel mutation linked to odontogenic keratocysts in Chinese BCNS patients, suggesting new treatment options.

Abstract

A novel pathogenic mutation of PTCHD3 was identified in Chinese BCNS patients. PTCHD3 may play a role in various biological processes mediated by the Hedgehog signalling pathway and is expected to be a new potential therapeutic target.

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Cite This Study

Zhou et al. (2026) studied this question.

synapsesocial.com/papers/69be37506e48c4981c676d36 https://doi.org/10.3290/j.cjdr.b6953776

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A Novel Mutation of PTCHD3 Identified in a Chinese Family with Basal Cell Nevus Syndrome-associated Odontogenic Keratocysts.

Key Points

Implication

Abstract

Discussion

Cite This Study

A Novel Mutation of PTCHD3 Identified in a Chinese Family with Basal Cell Nevus Syndrome-associated Odontogenic Keratocysts.

Key Points

Implication

Abstract

Discussion

Cite This Study

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