Elahi Vahed Iman, Tehrani Fateh Sahand, Kamali Melika, Hashemi-Gorji Farzad, Esmaeilzadeh Zahra, Sadeghi Hossein, Miryounesi Mohammad, Ghasemi Mohammad-Reza
School of Medicine, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran.
School of Medicine, Tehran University of Medical Sciences (TUMS), Tehran, Iran.
Mol Genet Metab Rep. 2024 Jul 24;40:101125. doi: 10.1016/j.ymgmr.2024.101125. eCollection 2024 Sep.
Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterized by muscle stiffness (myotonia) and chondrodysplasia. This disease is caused by biallelic loss of function mutations in the gene, which encodes the core protein of perlecan. This study aims to investigate causative variants in two sisters born to consanguineous Iranian parents. Both patients were presented with myotonia and a mask-like face; moreover, they showed a less common symptom, gastrointestinal bleeding, which is not typical of SJS and has only been reported in one patient. Regarding the crucial role of perlecan in vascular structure and mucosal stability, bleeding disorders could be expected in perlecan dysfunctions. In addition to the case study, a comprehensive literature review was conducted to gather information on similar genetic variants, associated clinical features, and possible disease mechanisms. Results of this study contribute to our understanding of the genetic and clinical aspects of Schwartz-Jampel syndrome, and more importantly, the manifestation of gastrointestinal bleeding in patients with Schwartz-Jampel syndrome.
施瓦茨 - 扬佩尔综合征（SJS）是一种罕见的常染色体隐性疾病，其特征为肌肉僵硬（肌强直）和软骨发育不良。这种疾病由双等位基因功能丧失突变引起，该突变发生在编码基底膜聚糖核心蛋白的基因中。本研究旨在调查一对伊朗近亲父母所生的两姐妹中的致病变异。两名患者均表现出肌强直和面具样面容；此外，她们还出现了一种不太常见的症状——胃肠道出血，这并非SJS的典型症状，仅有一名患者有过相关报道。鉴于基底膜聚糖在血管结构和黏膜稳定性中的关键作用，预计基底膜聚糖功能障碍会导致出血性疾病。除了该病例研究外，还进行了全面的文献综述，以收集有关类似基因变异、相关临床特征及可能的疾病机制的信息。本研究结果有助于我们了解施瓦茨 - 扬佩尔综合征的遗传和临床方面，更重要的是，有助于了解施瓦茨 - 扬佩尔综合征患者胃肠道出血的表现。
