Work

Coronoidectomy for Alleviating Restricted Mouth Opening in Masticatory Muscle Tendon‐Aponeurosis Hyperplasia: Integration With Genetic Mutation Analysis

Year: 2025

Type: article

Abstract: Masticatory muscle tendon-aponeurosis hyperplasia (MMTAH) is often misdiagnosed as temporomandibular joint disorders, hypertrophic masticatory muscles, or congenital maxillomandibular dysplasia due to overlapping clinical manifestations. This case study is aimed at elucidating a novel genetic association in MMTAH by reporting a patient with pathognomonic features, including chronic limited mouth opening, bilateral coronoid process elongation, tendon hyperplasia in the masseter and temporalis muscles, and concomitant fatty degeneration. Crucially, whole-exome sequencing of peripheral blood identified a heterozygous SYNE1 missense mutation (NM_182961.4:c.26359A>G, p.Met8787Val) in the proband. This variant, located in Exon 146 (Chr6:152122471), is an unreported variant at this locus and predicted pathogenic by in silico tools, suggesting its potential role in MMTAH pathogenesis. The study highlights the importance of genetic screening in atypical presentations to refine diagnosis and understand disease etiology.

Source: Case Reports in Dentistry

DOI: 10.1155/crid/5591642

Authors: Hongrong Zhang, Weihong Wang, Liang Wen

Institutions: Kunming Medical University, First Affiliated Hospital of Kunming Medical University

Language: English

Topic: Temporomandibular Joint Disorders

Subfield: Complementary and Manual Therapy

Field: Health Professions

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $870