title: Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation inMT-TW.
abstract: We report a patient harboring ade novom.5540G>A mutation affecting theMT-TWgene coding for the mitochondrial tryptophan-transfer RNA. This patient presented with atonic-myoclonic epilepsy, bilateral sensorineural hearing loss, ataxia, motor regression, ptosis, and pigmentary retinopathy. Our proband had an earlier onset and more severe phenotype than the first reported patient harboring the same mutation. We discuss her clinical presentation and compare it with the only previously published case.
authors.affiliation: Instituto de Genética Humana, Universidad Nacional de, Bogotá, Colombia.
authors.forename: Jorge L
authors.initials: JL
authors.lastname: Granadillo
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas ; Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio.
authors.forename: Timothy
authors.initials: T
authors.lastname: Moss
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas ; Department of Ophthalmology, Cullen Eye Institute, Baylor College of Medicine, Houston, Texas.
authors.forename: Richard A
authors.initials: RA
authors.lastname: Lewis
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas ; Texas Children's Hospital, Houston, Texas.
authors.forename: Elise G
authors.initials: EG
authors.lastname: Austin
authors.affiliation: Department of Neurology, Cook Children's Medical Center, Fort Worth, Texas.
authors.forename: Howard
authors.initials: H
authors.lastname: Kelfer
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
authors.forename: Lee-Jun C
authors.initials: LJ
authors.lastname: Wong
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas ; Texas Children's Hospital, Houston, Texas.
authors.forename: Fernando
authors.initials: F
authors.lastname: Scaglia
keywords: MT-TW gene; Mitochondrial DNA; ataxia; pigmentary retinopathy; sensorineural hearing loss