Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency
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DOI：
10.1007/s10545-013-9671-6
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发表时间：
2014-05-01
影响因子：
4.2
通讯作者：
Yan, Chuanzhu
中科院分区：
文献类型：
--
作者：
Xi, Jianying;Wen, Bing;Yan, Chuanzhu
ETFDH基因突变导致的多重酰基辅酶A脱氢酶缺乏症是我国脂质沉积性肌病的主要病因。我们在此分析了最大MADD患者队列（90例无关患者）中ETFDH突变谱。我们鉴定了61个ETFDH突变，包括31个新突变，它们广泛分布在编码序列内。发现了三种常见突变：c.250G > A（华南地区最常见），c.770A > G和c.1227A > C（华南和华北地区均最常见）。等位基因频率的地区差异和进一步的单倍型分析表明c.250G > A和c.770A > G可能存在奠基者效应。这些发现有望为实施快速经济的MADD诊断策略提供基础。
The major cause of lipid storage myopathies (LSM) in China is multiple acyl-CoA dehydrogenase deficiency (MADD) caused by ETFDH mutations. We here present an analysis of the spectrum of ETFDH mutations in the largest cohort of patients with MADD (90 unrelated patients). We identified 61 ETFDH mutations, including 31 novel mutations, which were widely distributed within the coding sequence. Three frequent mutations were identified: c.250G > A (most common in South China), c.770A > G and c.1227A > C (most common in both South and North China). Regional differences of allele frequency and further haplotype analysis suggest the possibility of founder effects of c.250G > A and c.770A > G. These findings promise to provide the basis for implementing a rapid and economical strategy for diagnosing MADD.