4例cblC型甲基丙二酸尿症和高胱氨酸尿症的基因分析
Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.
作者信息
Wang Jun, Li Erzhen, Wang Liwen, Wang Zhilong, Yang Shenghai, Zhou Qiao, Chen Qian
机构信息
Department of Neurology, Capital Institute of Pediatrics Beijing, PR China.
Clinical Laboratory of Zhongke Beijing, PR China.
出版信息
Int J Clin Exp Pathol. 2015 Aug 1;8(8):9337-41. eCollection 2015.
Abstract
Methylmalonic aciduria and homocystinuria, cblC type, is the most common disorder of intracellular vitamin B12 (cobalamin, cbl) metabolism, which results in impaired biosynthesis of methylcobalamin and adenosylcobalamin. The gene MMACHC responsible for the cblC type had been identified, which enables molecular diagnostics. Here, we report four cblC type cases, which were identified by the typical manifestations, and a new approach of next-generation sequencing platform in pediatrics for genetic diseases, further confirmed by Sanger sequencing of the whole MMACHC gene. The article will replenish the mutational information of related genes to the cblC type, which makes for detecting of cblC disease through the newborn screening.
摘要
甲基丙二酸血症和同型胱氨酸尿症，cblC型，是细胞内维生素B12（钴胺素，cbl）代谢最常见的紊乱疾病，可导致甲基钴胺素和腺苷钴胺素的生物合成受损。负责cblC型的MMACHC基因已被鉴定出来，这使得分子诊断成为可能。在此，我们报告了4例通过典型临床表现确诊的cblC型病例，以及一种用于儿科遗传疾病的新一代测序平台新方法，并通过对整个MMACHC基因的桑格测序进一步得到证实。本文将补充cblC型相关基因的突变信息，有助于通过新生儿筛查检测cblC病。
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Hum Mutat. 2009 Nov;30(11):1558-66. doi: 10.1002/humu.21107.
2
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Mol Genet Metab. 2009 Sep-Oct;98(1-2):173-80. doi: 10.1016/j.ymgme.2009.06.007. Epub 2009 Jun 14.
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Hum Mutat. 2009 Jul;30(7):1072-81. doi: 10.1002/humu.21001.
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The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.青少年及成人型钴胺素C病：临床与分子谱
J Neurol Neurosurg Psychiatry. 2008 Jun;79(6):725-8. doi: 10.1136/jnnp.2007.133025. Epub 2008 Feb 1.
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6
Late-onset cobalamin-C disorder: a challenging diagnosis.迟发性钴胺素C障碍：一项具有挑战性的诊断。
Am J Med Genet A. 2007 May 1;143A(9):979-84. doi: 10.1002/ajmg.a.31671.
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