A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.
A 29-year-old Spanish man presented with chronic intestinal pseudo-obstruction, progressive external ophthalmoplegia, peripheral neuropathy, and diffuse leukoencephalopathy. This combination of clinical features is characteristic of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Genetic analysis revealed a novel 18-base pair (bp) duplication (5044-5061 dup) in exon 8 of the thymidine phosphorylase (TP) gene. The mutation is predicted to produce a 6 amino acid insertion in the alpha-beta-domain of the protein. This 18-bp insertion in the thymidine phosphorylase gene is the first duplication mutation identified in MNGIE.
Gamez
Josep
J
Department of Neurology, Hospital Universitari Vall d' Hebron, Barcelona, Spain.
Lara
Maria Carmen
MC
Mearin
Fermin
F
Oliveras-Ley
Carlos
C
Raguer
Nuria
N
Olive
Montse
M
Leist
Andres T
AT
Perello
Antonia
A
Perona
Monica
M
Cervera
Carlos
C
Andreu
Antonio Luis
AL
Martí
Ramon
R
Hirano
Michio
M
D015720:5'-Nucleotidase / Q000737:chemistry / Q000235:genetics*; D000328:Adult; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons; D005838:Genotype; D006801:Humans; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000097:blood / Q000235:genetics*; D009154:Mutation; D017246:Ophthalmoplegia, Chronic Progressive External / Q000097:blood / Q000235:genetics*; D012189:Retrospective Studies; D013030:Spain
D015720:5'-Nucleotidase