Department of Neurology, The Second Hospital of Hebei Medical University, Hebei, China.
Neuropathology. 2019 Jun;39(3):207-211. doi: 10.1111/neup.12549. Epub 2019 Apr 15.
Limb-girdle muscular dystrophy 2D (LGMD2D) is caused by mutations in the α-sarcoglycan gene (SGCA). Due to lack of specificity, it is impossible to identify LGMD2D only by clinical symptoms and conventional immunohistochemical staining. The loss of any protein (α-, β-, γ-, δ-sarcoglycan) that represent sarcoglycanopathy may cause reduction or absence of the other three proteins. Here, we report a patient with a complete loss of all the four proteins. Next generation sequencing (NGS) results showed a missense mutation (C.218 C > T) and a partial heterozygous deletion containing exons 7 and 8 of SGCA, which led to the final diagnosis of the patient. The discovery of this new mutation could broaden the spectrum of SGCA mutations, which may be associated with putative LGMD2D, especially when all the four proteins are completely missing.
肢带型肌营养不良 2D（LGMD2D）是由α- sarcoglycan 基因（SGCA）突变引起的。由于缺乏特异性，仅通过临床症状和常规免疫组织化学染色无法识别 LGMD2D。任何一种代表 sarcoglycanopathy 的蛋白（α-、β-、γ-、δ- sarcoglycan）的缺失都可能导致另外三种蛋白减少或缺失。在这里，我们报告了一例四种蛋白完全缺失的患者。下一代测序（NGS）结果显示 SGCA 外显子 7 和 8 包含的错义突变（C.218 C>T）和部分杂合缺失，最终导致了患者的诊断。这一新突变的发现可能拓宽了 SGCA 突变的范围，这可能与推定的 LGMD2D 相关，尤其是当所有四种蛋白完全缺失时。
