Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in MT-TW

Jorge L Granadillo; Timothy Moss; Richard A Lewis; Elise G Austin; Howard Kelfer; Jing Wang; Lee-Jun C Wong; Fernando Scaglia

doi:10.1016/j.ymgmr.2013.12.001

Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in MT-TW

Mol Genet Metab Rep. 2014:1:61-65. doi: 10.1016/j.ymgmr.2013.12.001.

Authors

Jorge L Granadillo¹, Timothy Moss², Richard A Lewis³, Elise G Austin⁴, Howard Kelfer⁵, Jing Wang⁶, Lee-Jun C Wong⁶, Fernando Scaglia⁴

Affiliations

¹ Instituto de Genética Humana, Universidad Nacional de, Bogotá, Colombia.
² Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas ; Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio.
³ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas ; Department of Ophthalmology, Cullen Eye Institute, Baylor College of Medicine, Houston, Texas.
⁴ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas ; Texas Children's Hospital, Houston, Texas.
⁵ Department of Neurology, Cook Children's Medical Center, Fort Worth, Texas.
⁶ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

Abstract

We report a patient harboring a de novo m.5540G>A mutation affecting the MT-TW gene 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.

Keywords: MT-TW gene; Mitochondrial DNA; ataxia; pigmentary retinopathy; sensorineural hearing loss.

Grants and funding

T32 GM007526/GM/NIGMS NIH HHS/United States