title: Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease.
abstract: Disease-related mutations in the mitochondrial methionyl-tRNA formyltransferase (MTFMT) gene encoding a critical enzyme for mitochondrial translation have been rarely reported and are described in association with Leigh syndrome and combined oxidative phosphorylation deficiency. Symptoms include developmental delay, followed by ataxia and spasticity manifesting at later stages. A man had a clinical picture suggestive of an acquired demyelinating disease. Brain magnetic resonance imaging (MRI) demonstrated extensive involvement of the optic nerves, cerebral white matter, brain stem, and spinal cord. Whole-exome sequencing detected a pathologic homozygous c.626C>T mutation in the MTFMT gene. These findings expand the clinical features and neuroimaging spectrum associated with MTFMT mutations to include a relapsing-remitting phenotype.
authors.affiliation: Division of Pediatric Neurology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Joaquin A
authors.initials: JA
authors.lastname: Pena
authors.affiliation: Division of Pediatric Neurology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA tlotze@bcm.edu.
authors.forename: Timothy
authors.initials: T
authors.lastname: Lotze
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Yaping
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Department of Pediatric Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX, USA.
authors.forename: Luis
authors.initials: L
authors.lastname: Umana
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Walkiewicz
authors.affiliation: Department of Radiology, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Jill V
authors.initials: JV
authors.lastname: Hunter
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Fernando
authors.initials: F
authors.lastname: Scaglia
mesh_terms: D001921:Brain / Q000473:pathology; D003711:Demyelinating Diseases / Q000175:diagnosis; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D006801:Humans; D019877:Hydroxymethyl and Formyl Transferases / Q000172:deficiency* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D013116:Spinal Cord / Q000473:pathology; D055815:Young Adult
chemical_list: D019877:Hydroxymethyl and Formyl Transferases; C021561:methionyl-tRNA formyltransferase
keywords: MTFMT; children; mitochondrial translation; neuroimaging; neuromyelitis optica