MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene

J Child Neurol. 2015 Jul;30(8):1053-6. doi: 10.1177/0883073814541474. Epub 2014 Jul 22.

Abstract

We report the first Palestinian child manifesting with 3-methylglutaconic aciduria psychomotor delay, muscle hypotonia, sensori-neural deafness, and Leigh-like lesions on brain magnetic resonance imaging (MRI), a clinical phenotype that is characteristic of MEGDEL syndrome. MEGDEL syndrome was recently found to be caused by mutations in SERAC1, encoding a protein essential for mitochondrial function, phospholipid remodeling, and intracellular cholesterol trafficking. We identified a novel homozygous mutation in SERAC1 gene (c.1018delT) that generates frame shift and premature termination of protein translation. Plasma and cerebrospinal fluid lactate, plasma alanine, and respiratory chain complexes in fresh muscle were normal. This report further expands the genetic spectrum of MEGDEL syndrome and adds to the evidence that it is associated with variable patterns of respiratory chain abnormalities.

Keywords: Leigh-like syndrome; MEGDEL; sensorineural deafness.

Publication types

  • Case Reports

MeSH terms

  • Arabs
  • Carboxylic Ester Hydrolases / genetics*
  • Consanguinity
  • Hearing Loss, Sensorineural / complications
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Infant
  • Leigh Disease / complications
  • Leigh Disease / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Motor Skills Disorders / complications
  • Motor Skills Disorders / genetics*
  • Muscle Hypotonia / complications
  • Muscle Hypotonia / genetics*
  • Mutation / genetics*

Substances

  • Carboxylic Ester Hydrolases
  • SERAC1 protein, human