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首页> 外文期刊>Clinical Genetics: An International Journal of Genetics in Medicine >Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.
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Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.

机译：先天性肌强直和肌强直性营养不良：同一家族的CLCN1突变和CNBP（ZNF9）基因的扩增并存。

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摘要

Myotonia is characterized by hyperexcitability of the muscle cell membrane. Myotonic disorders are divided into two main categories: non-dystrophic and dystrophic myotonias. The non-dystrophic myotonias involve solely the muscle system, whereas the dystrophic myotonias are characterized by multisystem involvement and additional muscle weakness. Each category is further subdivided into different groups according to additional clinical features or/and underlying genetic defects. However, the phenotypes and the pathological mechanisms of these myotonic disorders are still not entirely understood. Currently, four genes are identified to be involved in myotonia: the muscle voltage-gated sodium and chloride channel genes SCN4A and CLCN1, the myotonic dystrophy protein kinase (DMPK) gene, and the CCHC-type zinc finger, nucleic acid binding protein gene CNBP. Additional gene(s) and/or modifying factor(s) remain to be identified. In this study, we investigated a large Norwegian family with clinically different presentations of myotonic disorders. Molecular analysis revealed CCTG repeat expansions in the CNBP gene in all affected members, confirming that they have myotonic dystrophy type 2. However, a CLCN1 mutation c.1238C>G, causing p.Phe413Cys, was also identified in several affected family members. Heterozygosity for p.Phe413Cys seems to exaggerate the severity of myotonia and thereby, to some degree, contributing to the pronounced variability in the myotonic phenotype in this family.
机译：肌强直的特征在于肌肉细胞膜的过度兴奋。肌强直性疾病分为两大类：非营养性和营养不良性肌强直。非营养性肌强直仅累及肌肉系统，而营养障碍性肌强直的特征是多系统累及和额外的肌肉无力。根据其他临床特征或/和潜在的遗传缺陷，每个类别进一步细分为不同的组。然而，这些强直性疾病的表型和病理机制仍未完全了解。当前，已确定了与肌强直有关的四个基因：肌肉电压门控钠和氯通道基因SCN4A和CLCN1，肌强直性营养不良蛋白激酶（DMPK）基因和CCHC型锌指，核酸结合蛋白基因CNBP 。其他基因和/或修饰因子仍有待鉴定。在这项研究中，我们调查了一个挪威大家庭，他们在临床上表现出不同的强直性疾病。分子分析显示，在所有受影响的成员中，CCTG基因的CCTG重复扩增，证实它们患有2型强直性营养不良。但是，在多个受影响的家庭成员中，也发现了导致p.Phe413Cys的CLCN1突变c.1238C> G。 p.Phe413Cys的杂合性似乎夸大了肌强直的严重程度，因此在一定程度上导致了该家族中肌强直表型的明显变异。

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