Zhang Hongrong, Wang Weihong, Wen Liang
Department of Oral and Maxillofacial Surgery, Affiliated Stomatology Hospital of Kunming Medical University, Kunming, China.
Yunnan Key Laboratory of Stomatology, Kunming, China.
Case Rep Dent. 2025 Jun 13;2025:5591642. doi: 10.1155/crid/5591642. eCollection 2025.
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.
咀嚼肌肌腱-腱膜增生症（MMTAH）由于临床表现重叠，常被误诊为颞下颌关节紊乱症、咀嚼肌肥大或先天性上颌下颌发育异常。本病例研究旨在通过报告一名具有特征性表现的患者来阐明MMTAH中一种新的基因关联，这些特征包括慢性张口受限、双侧冠状突延长、咬肌和颞肌肌腱增生以及伴有脂肪变性。至关重要的是，对患者外周血进行的全外显子组测序在先证者中发现了一个杂合的SYNE1错义突变（NM_182961.4:c.26359A>G，p.Met8787Val）。该变异位于第146外显子（Chr6:152122471），是该位点未报道的变异，且经计算机软件预测具有致病性，提示其在MMTAH发病机制中的潜在作用。该研究强调了基因筛查在非典型表现中的重要性，有助于精准诊断和理解疾病病因。
