Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency -: art. no. e28
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency -: art. no. e28
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DOI：
10.1136/jmg.2004.029926
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发表时间：
2005-05-01
影响因子：
4
通讯作者：
Zeviani, M
中科院分区：
文献类型：
--
作者：
Bugiani, M;Tiranti, V;Zeviani, M
背景：孤立的细胞色素c氧化酶(COX)缺乏症通常与参与COX生物发生的几个因素的突变有关。方法：我们描述了一例非典型的长期存活的Leigh综合征患者，该患者携带COX15基因的两个新突变，该基因编码与血红素A生物合成有关的酶。结果：到目前为止，只有两个COX15突变的患者被描述，一个是严重的新生儿心肌病，另一个是快速致死性的Leigh综合征。相反，我们的患者病程进展缓慢，没有心脏受累。结论：COX15缺陷症的临床和生化表型比其他与COX缺乏症相关的疾病，如SURF1突变，具有更多的异质性。
Background: Isolated cytochrome c oxidase ( COX) deficiency is usually associated with mutations in several factors involved in the biogenesis of COX.Methods: We describe a patient with atypical, long surviving Leigh syndrome carrying two novel mutations in the COX15 gene, which encodes an enzyme involved in the biosynthesis of heme A.Results: Only two COX15 mutated patients, one with severe neonatal cardiomyopathy, the other with rapidly fatal Leigh syndrome, have been described to date. In contrast, our patient had a slowly progressive course with no heart involvement. COX deficiency was mild in muscle and a normal amount of fully assembled COX was present in cultured fibroblasts.Conclusions: The clinical and biochemical phenotypes in COX15 defects are more heterogeneous than in other conditions associated with COX deficiency, such as mutations in SURF1.