关键词: CACNA1S CACNA1S myopathy congenital myopathies dihydropyridine receptor congenital myopathy

Mesh : Female Humans Calcium Channels, L-Type / genetics Muscular Diseases / genetics Mutation Muscle, Skeletal / pathology Phenotype Myotonia Congenita / genetics

来  源:   DOI:10.3390/genes14071363   PDF(Pubmed)

Abstract:
Congenital myopathies are a group of clinically, genetically, and histologically heterogeneous diseases caused by mutations in a large group of genes. One of these is CACNA1S, which is recognized as the cause of Dihydropyridine Receptor Congenital Myopathy.
To better characterize the phenotypic spectrum of CACNA1S myopathy, we conducted a systematic review of cases in the literature through three electronic databases following the PRISMA guidelines. We selected nine articles describing 23 patients with heterozygous, homozygous, or compound heterozygous mutations in CACNA1S and we added one patient with a compound heterozygous mutation in CACNA1S (c.1394-2A>G; c.1724T>C, p.L575P) followed at our Institute. We collected clinical and genetic data, muscle biopsies, and muscle MRIs when available.
The phenotype of this myopathy is heterogeneous, ranging from more severe forms with a lethal early onset and mild-moderate forms with a better clinical course.
Our patient presented a phenotype compatible with the mild-moderate form, although she presented peculiar features such as a short stature, myopia, mild sensorineural hearing loss, psychiatric symptoms, and posterior-anterior impairment gradient on thigh muscle MRI.
摘要:
先天性肌病是一组临床上,基因,以及由一大群基因突变引起的组织学异质性疾病。其中之一是CACNA1S,这被认为是二氢吡啶受体先天性肌病的原因。
为了更好地表征CACNA1S肌病的表型谱,我们按照PRISMA指南,通过三个电子数据库对文献中的病例进行了系统回顾.我们选择了9篇文章,描述了23例杂合子,纯合子,或CACNA1S中的复合杂合突变,我们增加了一名CACNA1S中具有复合杂合突变的患者(c.1394-2A>G;c.1724T>C,p.L575P)在我们研究所紧随其后。我们收集了临床和基因数据,肌肉活检,和肌肉核磁共振成像。
这种肌病的表型是异质性的,范围从更严重的形式,具有致命的早期发作和轻度-中度形式,具有更好的临床过程。
我们的患者表现出与轻度-中度形式相容的表型,尽管她表现出独特的特征,例如身材矮小,近视,轻度感觉神经性听力损失,精神症状,和大腿肌肉MRI的前后损伤梯度。
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