Novel mitochondrial tRNALeu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype
Novel mitochondrial tRNALeu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype
复制标题
DOI：
10.1016/j.nmd.2007.12.005
复制
发表时间：
2008-03-01
影响因子：
2.8
通讯作者：
Tornelleri, Giuliano
中科院分区：
文献类型：
--
作者：
Filosto, Massimiliano;Tonin, Paola;Tornelleri, Giuliano
mtdna编码的tRNA基因的点突变经常引起孤立性肌病，但很少引起面肩肱骨表型。我们报告了一位患有慢性进行性面肩胛/腓肌无力的患者，其肌肉活检显示为线粒体肌病。mtDNA直接测序和RFLP分析显示，异质转移T12313C破坏了tRNA（Leu(CUN)）基因TTC茎中的一个保守位点，符合公认的致病性标准。在患者及其母亲中也发现了核DNA D4Z4区域的部分缺失，残余重复大小为25 kb。这是第一例报道的线粒体肌病/面肩肱肌营养不良（FSHD）“双重麻烦”。(C) 2007 Elsevier B.V.版权所有
Point mutations in mtDNA-encoded tRNA genes frequently cause isolated myopathies but rarely cause the facioscapulohumeral phenotype.We report on a patient affected with chronic progressive weakness of facioscapulolmmeral/peroneal muscles whose muscle biopsy showed a mitochondrial myopathy. mtDNA direct sequencing and RFLP analysis revealed a heteroplasmic transition T12313C which disrupts a conserved site in the TTC stem of the tRNA(Leu(CUN)) gene and fulfills the accepted criteria of pathogenicity.A partial deletion of the nuclear DNA D4Z4 region with residual repeat sizes of 25 kb was also found in the patient and in her mother.This is the first reported case of mitochondrial myopathy/facioscapulohumeral muscular dystrophy (FSHD) "double trouble". (C) 2007 Elsevier B.V. All rights reserved.