Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in the thymidine phosphorylase gene (ECGF1). We present the first detailed report of a Brazilian MNGIE patient, harboring a novel ECGF1 homozygous mutation (C4202A, leading to a premature stop codon, S471X). Multiple deletions and the T5814C change were found in mitochondrial DNA. Together with gastrointestinal symptoms, endocrine involvement and memory dysfunction, not reported in MNGIE to date, were the most preeminent features.
Carod-Artal
F J
FJ
Neurology Department, Sarah Hospital, Brasilia DF, Brazil. javier@sarah.br
Herrero
M D
MD
Lara
M C
MC
López-Gallardo
E
E
Ruiz-Pesini
E
E
Martí
R
R
Montoya
J
J
D000328:Adult; D001921:Brain / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D001938:Brazil; D018389:Codon, Nonsense / Q000235:genetics; D003072:Cognition Disorders / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D005767:Gastrointestinal Diseases / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D017353:Gene Deletion; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008569:Memory Disorders / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D017237:Mitochondrial Encephalomyopathies / Q000150:complications* / Q000235:genetics* / Q000523:psychology; D009154:Mutation / Q000235:genetics*; D013939:Thymidine Phosphorylase / Q000235:genetics*
D018389:Codon, Nonsense; D004272:DNA, Mitochondrial; D005819:Genetic Markers; D013939:Thymidine Phosphorylase