title: A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy.
abstract: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder characterized by gastrointestinal, extraocular muscle, peripheral nerve, and cerebral white matter involvement. Mutations in the nuclear gene TYMP encoding for thymidine phosphorylase (TP) cause loss of TP activity, systemic accumulation of its substrates in plasma and tissues, as well as alterations in mitochondrial DNA including deletions, depletion, and somatic point mutations. To date, more than 30 mutations have been reported in diverse ethnic populations. We present herein the clinical, neuroimaging, neuromuscular, and molecular findings of the first French Canadian patient with MNGIE caused by a novel homozygous invariant splicing site (IVS5 +1 G>A) mutation of the TYMP gene.
authors.affiliation: Département des Sciences Neurologiques, Centre Hospitalier Affilié Universitaire de Québec, Hôpital de l'Enfant-Jésus, Québec, Canada. robert.laforce-jr.1@ulaval.ca
authors.forename: Robert
authors.initials: R
authors.lastname: Laforce
authors.forename: Paul N
authors.initials: PN
authors.lastname: Valdmanis
authors.forename: Nicolas
authors.initials: N
authors.lastname: Dupré
authors.forename: Guy A
authors.initials: GA
authors.lastname: Rouleau
authors.forename: Alexis F
authors.initials: AF
authors.lastname: Turgeon
authors.forename: Martin
authors.initials: M
authors.lastname: Savard
mesh_terms: D002100:Cachexia / Q000235:genetics; D016228:Endothelial Growth Factors / Q000235:genetics*; D017615:Enteric Nervous System / Q000503:physiopathology*; D017809:Fatal Outcome; D005260:Female; D005767:Gastrointestinal Diseases / Q000235:genetics* / Q000503:physiopathology; D005769:Gastrointestinal Motility; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D020033:Protein Isoforms / Q000235:genetics; D013577:Syndrome; D013939:Thymidine Phosphorylase / Q000235:genetics*; D055815:Young Adult
chemical_list: D016228:Endothelial Growth Factors; D020033:Protein Isoforms; C543750:TYMP protein, human; D013939:Thymidine Phosphorylase