Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy
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DOI：
10.1136/jmg.2008.058271
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发表时间：
2008-07-01
影响因子：
4
通讯作者：
Tiranti, V.
中科院分区：
文献类型：
--
作者：
Mineri, R.;Rimoldi, M.;Tiranti, V.
背景：乙基丙二酸脑病（EE）是一种罕见的常染色体隐性代谢性疾病，其特征是进行性脑病、复发性瘀点、肢绀和慢性腹泻，在生命早期具有致命的结局。方法：对14例EE患者进行ETHE1基因突变检测。结果：在14例患者中，发现5例携带新突变。结论：这项工作扩大了我们对EE致病突变的认识。
Background: Ethylmalonic encephalopathy (EE) is a rare autosomal recessive metabolic disorder characterised by progressive encephalopathy, recurrent petechiae, acrocyanosis and chronic diarrhoea, with a fatal outcome in early in life.Methods: 14 patients with EE were investigated for mutations in the ETHE1 gene.Results: Of the 14 patients, 5 were found to carry novel mutations.Conclusions: This work expands our knowledge of the causative mutations of EE.