在14例表现为乙基丙二酸脑病的患者队列中鉴定ETHE1基因的新突变。
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
作者信息
Mineri R, Rimoldi M, Burlina A B, Koskull S, Perletti C, Heese B, von Döbeln U, Mereghetti P, Di Meo I, Invernizzi F, Zeviani M, Uziel G, Tiranti V
机构信息
Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, RCCS Foundation Neurological Institute C. Besta, Milan, Italy.
出版信息
J Med Genet. 2008 Jul;45(7):473-8. doi: 10.1136/jmg.2008.058271.
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.
背景
乙基丙二酸脑病（EE）是一种罕见的常染色体隐性代谢紊乱疾病，其特征为进行性脑病、复发性瘀点、手足发绀和慢性腹泻，在生命早期会导致致命后果。
方法
对14例乙基丙二酸脑病患者进行ETHE1基因突变检测。
结果
14例患者中，5例携带新的突变。
结论
本研究拓展了我们对乙基丙二酸脑病原发性突变的认识。
Zotero 插件