The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene

E Keilland; C A Rupar; Asuri N Prasad; K Y Tay; A Downie; C Prasad

doi:10.1016/j.ymgmr.2016.02.003

The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene

Mol Genet Metab Rep. 2016 Feb 22:6:64-9. doi: 10.1016/j.ymgmr.2016.02.003. eCollection 2016 Mar.

Authors

E Keilland¹, C A Rupar², Asuri N Prasad³, K Y Tay⁴, A Downie⁵, C Prasad⁶

Affiliations

¹ Department of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
² Department of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Department of Biochemistry, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Department of Pathology and Laboratory Medicine, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Children's Health Research Institute, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
³ Department of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Department of Neurology, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Children's Health Research Institute, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
⁴ Medical Imaging, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
⁵ Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Paediatric Psychology, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.
⁶ Department of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Children's Health Research Institute, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.

Abstract

m.3291T > C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the following report we describe in detail the phenotypic features, long term follow up (> 7 years) and management in a Caucasian family with MELAS due to the m.3291T > C mutation and review the literature on m.3291T > C mutation. The clinical phenotype in the proposita included overlapping features of MELAS, MERRF (Myoclonic epilepsy and ragged-red fiber syndrome), MNGIE (Mitochondrial neurogastrointestinal encephalopathy), KSS (Kearns-Sayre Syndrome) and CPEO (Chronic progressive external ophthalmoplegia).

Keywords: MELAS; MELAS 3291T > C; Mitochondrial; Phenotypic features; tRNAleu (UUR) mutation.

Publication types

Case Reports