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Article

A Novel COL12A1 Mutation Causes Oral Tissue Abnormalities by Regulating Gingival Fibroblast Function.

Oral diseases - 1 Dec 2025

Yu Shi, Wang Yuanyuan, Yuan Xiaojing, Yang Yi, Wang Xin, Qin Man

Abstract excerpt

OBJECTIVE: This study aimed to identify a novel COL12A1 mutation in a patient with Ullrich congenital muscular dystrophy-2 (UCMD2) presenting with gingival hyperplasia and skeletal anomalies and to characterize its functional impact on gingival fibroblasts (GFs) behavior. METHODS: Whole-exome sequencing identified COL12A1 mutations in a consanguineous family. GFs isolated from the patient and healthy controls...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40530458
DOI: 10.1111/odi.70000

Genes

COL12A1
PCNA
RUNX2

Variants

Provenance

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