未经证实:先天性肌无力综合征(CMS)是一组以神经肌肉接头缺陷为特征的临床和遗传异质性遗传性疾病。GFPT1中的突变已被证明是CMS的基础。已经报道了由于GFPT1中的突变而导致的CMS患者数量的增加。然而,全球缺乏对GFPT相关CMS的临床和遗传分析的全面审查,尤其是,鉴于GFPT1中常见或热点突变尚未报道。这里,我们描述了来自中国西南部的3例GFPT1突变患者的临床和遗传学发现,并回顾了全球GFPT1相关CMS患者的临床和遗传学特征.
未经证实:临床,实验室,电生理学,肌肉病理学,并对中国西南部3例GFPT1相关CMS患者进行了基因分析,并对PubMed数据库中先前发表或报道的具有GFPT1突变的先天性肌无力综合征病例进行了综述。
未经证实:临床,实验室,电生理学,3例GFPT1相关CMS患者肌肉活检的肌肉病理学特征与先前报道的GFPT1突变患者一致。此外,发现高频RNS异常衰减。两种不同的纯合错义突变(c.333C>T,p.R111C;c.44C>T,p.T15M)通过全外显子组测序(WES)或靶向神经肌肉疾病基因组检测。
UNASSIGNED:在中国西南部的三名GFPT1相关CMS患者中发现了对高频RNS的明显减弱反应,迄今为止从未报道过。此外,肾小管聚集体(TA)的位置和程度似乎与临床症状的严重程度和血清肌酸激酶水平有关,进一步扩大GFPT1相关CMS的表型谱。最后,在全球范围内的GFPT1-CMS中发现了GFPT1的一些潜在热点突变。
UNASSIGNED: Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of inherited disorders characterized by neuromuscular junction defects. Mutations in GFPT1 have been shown to underlie CMS. An increasing number of patients with CMS due to mutations in GFPT1 have been reported. However, a comprehensive review of clinical and genetic analyses of GFPT-related CMS worldwide is lacking, especially, given that the common or hotspot mutations in GFPT1 have not been reported. Here, we described the clinical and genetic findings of three patients with GFPT1 mutations from southwestern China and reviewed the clinical and genetic features of patients with GFPT1-related CMS worldwide.
UNASSIGNED: Clinical, laboratory, electrophysiological, myopathological, and genetic analyses of three patients with GFPT1-related CMS from southwestern China were conducted, and a review of previously published or reported cases about congenital myasthenic syndrome with GFPT1 mutations in the PubMed database was made.
UNASSIGNED: The clinical, laboratory, electrophysiological, and myopathological features by muscle biopsy of three patients with GFPT1-related CMS were consistent with those of previously reported patients with GFPT1 mutations. Additionally, an abnormal decrement in high-frequency RNS was found. Two different homozygous missense mutations (c.331C>T, p.R111C; c.44C>T, p.T15M) were detected by whole-exome sequencing (WES) or targeted neuromuscular disorder gene panels.
UNASSIGNED: A distinct decremental response to high-frequency RNS was found in three patients with GFPT1-related CMS from southwestern China, which has never been reported thus far. In addition, the location and degree of tubular aggregates (TAs) seemed to be associated with the severity of clinical symptoms and serum creatine kinase levels, further expanding the phenotypic spectrum of GFPT1-related CMS. Lastly, some potential hotspot mutations in GFPT1 have been found in GFPT1-CMS worldwide.