Elsayed Shaymaa, Elmakkawy Gehad A, Abdelrazek Ibrahim M, Fawzy Dina A, Kim JiHye, Song YongJun, Omar Omneya M, Abdalla Ebtesam M
Pediatric Endocrinology and Diabetology Unit, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.
Am J Med Genet A. 2025 Aug;197(8):e64068. doi: 10.1002/ajmg.a.64068. Epub 2025 Mar 26.
3M syndrome is a rare autosomal recessive disorder characterized by short stature and recognizable facial and musculoskeletal features. Pathogenic variants in the CUL7, OBSL1, and CCDC8 genes are implicated in the pathogenesis of 3M syndrome. In this review, we discuss the history, epidemiology, molecular basis, clinical features, and management strategies for 3M syndrome. Moreover, we report on 11 new patients (from 9 unrelated families) with short stature and dysmorphic features consistent with 3M syndrome, in whom we identified five novel pathogenic variants expanding the genetic landscape of the syndrome. Finally, we have reviewed the molecularly confirmed cases of 3M published to date.
3M综合征是一种罕见的常染色体隐性疾病，其特征为身材矮小以及具有可识别的面部和肌肉骨骼特征。CUL7、OBSL1和CCDC8基因的致病变异与3M综合征的发病机制有关。在本综述中，我们讨论了3M综合征的历史、流行病学、分子基础、临床特征和管理策略。此外，我们报告了11例新患者（来自9个无亲缘关系的家庭），他们身材矮小且具有与3M综合征一致的畸形特征，我们在这些患者中鉴定出5种新的致病变异，扩展了该综合征的遗传谱。最后，我们回顾了迄今为止已发表的经分子确诊的3M综合征病例。
