Congenital myasthenic syndrome comprises several genetic disorders that impair neuromuscular junction transmission. Causative mutations occur in at least 30 genes, approximately 6-8% of which are presynaptic. One such gene, VAMP1, encodes vesicle-associated membrane protein-1, which is crucial in the formation and fusion of synaptic vesicles with the presynaptic membrane at the neuromuscular junction. VAMP1 mutations are associated with two main phenotypes: a) autosomal recessive congenital myasthenic syndrome and b) autosomal dominant spastic ataxia 1. We report a girl from a consanguineous Saudi family presenting with hypotonia, developmental delay, feeding difficulties and floppiness since birth. Comprehensive genetic testing revealed a homozygous splicing mutation in VAMP1. RT-PCR confirmed the presence of an aberrant transcript causing skipping of exon 2 in the gene.

中文翻译：

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吡啶斯的明治疗后部分电生理恢复的 VAMP1 相关先天性肌无力综合征

先天性肌无力综合征包括几种损害神经肌肉接头传递的遗传疾病。致病突变发生在至少 30 个基因中，其中大约 6-8% 是突触前的。其中一个基因 VAMP1 编码囊泡相关膜蛋白-1，这对于突触囊泡与神经肌肉接头处突触前膜的形成和融合至关重要。VAMP1 突变与两种主要表型相关：a) 常染色体隐性先天性肌无力综合征和 b) 常染色体显性遗传性痉挛性共济失调 1. 我们报告了一个来自沙特近亲家庭的女孩，自出生以来就出现肌张力减退、发育迟缓、喂养困难和软弱无力。综合基因检测揭示了 VAMP1 中的纯合剪接突变。