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Coronoidectomy for Alleviating Restricted Mouth Opening in Masticatory Muscle Tendon-Aponeurosis Hyperplasia:
Hongrong Zhang1,2, Weihong Wang1,2, Liang Wen3
1Department of Oral and Maxillofacial Surgery, Affiliated Stomatology Hospital of Kunming Medical University, Kunming, China.
Case Reports in Dentistry
|June 23, 2025
Summary
Masticatory muscle tendon-aponeurosis hyperplasia (MMTAH) can be misdiagnosed. Genetic screening revealed a novel SYNE1 mutation, offering new insights into MMTAH causes and diagnosis.
Area of Science:
- Genetics
- Molecular Biology
- Medical Diagnostics
Background:
- Masticatory muscle tendon-aponeurosis hyperplasia (MMTAH) presents with symptoms overlapping temporomandibular joint disorders and maxillomandibular dysplasia, leading to frequent misdiagnosis.
- Accurate diagnosis of MMTAH is challenging due to its complex clinical manifestations and rarity.
Observation:
- A case study detailed a patient with chronic limited mouth opening, bilateral coronoid process elongation, and masseter/temporalis muscle tendon hyperplasia with fatty degeneration.
- The patient exhibited pathognomonic features suggestive of MMTAH, necessitating further etiological investigation.
Findings:
- Whole-exome sequencing identified a novel heterozygous SYNE1 missense mutation (NM_182961.4:c.26359A>G, p.Met8787Val) in the affected individual.
- In silico analysis predicted this unreported variant in Exon 146 to be pathogenic, implicating SYNE1 in MMTAH pathogenesis.
Implications:
- This discovery highlights the potential role of genetic factors in MMTAH etiology.
- Routine genetic screening in patients with atypical MMTAH presentations may improve diagnostic accuracy and understanding of the disease.
- Identifying the genetic basis of MMTAH can pave the way for targeted therapies and improved patient management.
