The trafficking protein particle (TRAPP) complex is a multisubunit protein complex that functions as a tethering factor involved in intracellular trafficking. TRAPPC11, a crucial subunit of this complex, is associated with pathogenic variants that cause a spectrum of disease, which can range from a limb girdle muscular dystrophy (LGMD) to developmental disability with muscle disease, movement disorder and global developmental delay (GDD)/intellectual disability (ID), or even a congenital muscular dystrophy (CMD). We reviewed the phenotype of all reported individuals with -opathies, including an additional Mexican patient with novel compound heterozygous missense variants in (c.751 T > C and c.1058C > G), restricted to the Latino population. In these 54 patients muscular dystrophy signs are common (early onset muscle weakness, increased serum creatine kinase levels, and dystrophic changes in muscle biopsy). They present two main phenotypes, one with a slowly progressive LGMD with or without GDD/ID ( = 12), and another with systemic involvement characterized by short stature, GDD/ID, microcephaly, hypotonia, poor speech, seizures, cerebral atrophy, cerebellar abnormalities, movement disorder, scoliosis, liver disease, and cataracts ( = 42). In 6 of them CMD was identified. Obstructive hydrocephaly, retrocerebellar cyst, and talipes equinovarus found in the individual reported here has not been described in deficiency. As in previous patients, membrane trafficking assays in our patient showed defective abnormal endoplasmic reticulum-Golgi transport as well as decreased expression of LAMP2, and ICAM-1 glycoproteins. This supports previous statements that -opathies are in fact a congenital disorder of glycosylation (CDG) with muscular dystrophy.

中文翻译：

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TRAPPC11-CDG 肌营养不良症：54 例病例回顾，包括一名新患者

运输蛋白颗粒 (TRAAPP) 复合物是一种多亚基蛋白复合物，充当参与细胞内运输的束缚因子。 TRAPPC11 是该复合体的一个重要亚基，与引起一系列疾病的致病变异相关，这些疾病的范围包括从肢带型肌营养不良症 (LGMD) 到肌肉疾病引起的发育障碍、运动障碍和整体发育迟缓 (GDD)/智力障碍（ID），甚至先天性肌营养不良症（CMD）。我们回顾了所有报告的 α-opathies 个体的表型，包括另一名墨西哥患者，其具有新型复合杂合错义变异（c.751 T > C 和 c.1058C > G），仅限于拉丁裔人群。在这 54 名患者中，肌营养不良症的体征很常见（早发性肌无力、血清肌酸激酶水平升高以及肌肉活检中的营养不良变化）。它们呈现两种主要表型，一种是缓慢进展的 LGMD，伴或不伴 GDD/ID (= 12)，另一种是全身受累，特征为身材矮小、GDD/ID、小头畸形、肌张力低下、语言能力差、癫痫发作、脑萎缩、小脑畸形、运动障碍、脊柱侧弯、肝脏疾病和白内障 (= 42)。其中 6 例被鉴定为 CMD。此处报告的个体中发现的阻塞性脑积水、小脑后囊肿和马蹄内翻足并未被描述为缺乏。与之前的患者一样，该患者的膜运输检测显示内质网-高尔基体运输异常存在缺陷，以及 LAMP2 和 ICAM-1 糖蛋白表达降低。这支持了之前的说法，即-opathies实际上是一种伴有肌营养不良的先天性糖基化障碍（CDG）。