突尼斯枫糖尿症患者的分子特征。
Molecular characterization of maple syrup urine disease patients from Tunisia.
机构信息
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Rua Dr. Roberto Frias s/n, 4200-465 Porto, Portugal.
出版信息
Gene. 2013 Mar 15;517(1):116-9. doi: 10.1016/j.gene.2012.12.097. Epub 2013 Jan 9.
Maple syrup urine disease (MSUD) is a rare disorder of branched-chain amino acids (BCAA) metabolism caused by the defective function of branched-chain α-ketoacid dehydrogenase complex (BCKD). The disease causal mutations can occur either in BCKDHA, BCKDHB or DBT genes encoding respectively the E1α, E1β and E2 subunits of the complex. In this study we report the molecular characterization of 3 Tunisian patients with the classic form of MSUD. Two novel putative mutations have been identified: the alteration c.716A>G (p.Glu239Gly) in BCKDHB and a small deletion (c.1333_1336delAATG; p.Asn445X) detected in DBT gene.
枫糖尿症（MSUD）是一种罕见的支链氨基酸（BCAA）代谢紊乱，由支链α-酮酸脱氢酶复合物（BCKD）的功能缺陷引起。疾病的致病突变可能发生在分别编码该复合物的 E1α、E1β 和 E2 亚基的 BCKDHA、BCKDHB 或 DBT 基因中。在这项研究中，我们报告了 3 例突尼斯经典型 MSUD 患者的分子特征。鉴定出了两种新的假定突变：BCKDHB 中的 c.716A>G（p.Glu239Gly）改变和 DBT 基因中的小缺失（c.1333_1336delAATG;p.Asn445X）。
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