首页> 美国卫生研究院文献>The Journal of Neurology and Psychopathology >Frataxin point mutations in two patients with Friedreichsataxia and unusual clinical features
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Frataxin point mutations in two patients with Friedreichsataxia and unusual clinical features

机译:两名弗里德赖希氏病患者的Frataxin点突变共济失调和异常的临床特征

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摘要

Two patients with a progressive ataxia are presented with clinical features consistent with classic Friedreich's ataxia (FRDA), but also with features unusual for FRDA. Analysis of DNA showed that each patient is heterozygous for the expanded GAA repeat of FRDA, but carries a base change on his other frataxin allele. For one patient a non-conservative arginine to cysteine amino acid change is predicted at amino acid 165 whereas the other mutation is found at the junction of exon one and intron one. Muscle biopsy showed an absence of frataxin immunoreactivity in the patient harbouring the intronic mutation, confirming the pathological nature of the base change. These mutations extend the range of point mutations seen in FRDA, and agree with recent reports suggesting phenotypic variation in patients with FRDA harbouring point mutations in conjunction with an expanded GAA repeat.

机译:两名患有进行性共济失调的患者表现出与经典弗雷德里希共济失调(FRDA)一致的临床特征,但也有FRDA不寻常的特征。 DNA分析显示,每位患者的FRDA的GAA重复序列均是杂合的,但其其他frataxin等位基因具有碱基改变。对于一个患者,预测在氨基酸165的氨基酸上非保守的精氨酸向半胱氨酸的变化,而在外显子一个和内含子一个的连接处发现另一突变。肌肉活检显示,携带内含子突变的患者不存在frataxin免疫反应性,证实了碱基改变的病理性质。这些突变扩大了FRDA中观察到的点突变的范围,并且与最近的报道一致,即FRDA携带点突变并扩展了GAA重复的患者的表型变异。

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