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

Abstract 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 rep...

Full description

Saved in:
Bibliographic Details
Published in:European journal of medical genetics 2008-05, Vol.51 (3), p.245-250
Main Authors: Monroy, Nancy, Macías Kauffer, Luis R, Mutchinick, Osvaldo M
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
ECGF1 gene
Female
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genetics of eukaryotes. Biological and molecular evolution
Humans
Male
Medical Education
Medical genetics
Medical sciences
Mexico
Mitochondrial Encephalomyopathies - enzymology
Mitochondrial Encephalomyopathies - genetics
MNGIE disease
Mutation
New mutation
Pedigree
Thymidine Phosphorylase - genetics
TP enzyme deficiency
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Abstract 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.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2007.12.007