Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene

被引：17
|
作者：
Monroy, Nancy [1 ]
Kauffer, Luis R. Macias [1 ]
Mutchinick, Osvaldo M. [1 ]
机构：
[1] Natl Inst Med Sci & Nutr Salvador Zubiran, Dept Genet, Secc 16, Mexico City 14000, DF, Mexico
来源：
EUROPEAN JOURNAL OF MEDICAL GENETICS | 2008年 / 51卷 / 03期
关键词：
MNGIE disease; ECGF1; gene; new mutation; TP enzyme deficiency;
D O I：
10.1016/j.ejmg.2007.12.007
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by mutations in the thymidine phosphorylase gene located on chromosome 22q13.32-ter, causing defective functioning of the enzyme. At present 87 sporadic or familial cases have been reported and 52 different mutations identified. We present herein the clinical, neuromuscular and molecular findings of two affected brothers from an indigenous Mexican family living in a very small village not far from Mexico City, both brothers being homozygous for a novel mutation (Leu133Pro) in exon 3 of the ECGF1 gene. (C) 2008 Elsevier Masson SAS. All rights reserved.
引用
收藏
页码：245 / 250
页数：6
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