Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities

Neurogenetics. 2015 Apr;16(2):145-9. doi: 10.1007/s10048-014-0432-y. Epub 2014 Nov 30.

Abstract

We describe a family with QARS deficiency due to compound heterozygous QARS mutations, including c.1387G > A (p.R463*) in the catalytic core domain and c.2226C > G (p.Q742H) in the anticodon domain, both previously unreported and predicted damaging. The phenotype of the male index further confirms this specific aminoacyl-transfer RNA (tRNA) synthetase disorder as a novel genetic cause of progressive microcephaly with diffuse cerebral atrophy, severely deficient myelination, intractable seizures, and developmental arrest. However, in contrast to the two hitherto published families, the cerebellum and its myelination are not affected. An awareness that QARS mutations may cause isolated supratentorial changes is crucial for properly directing genetic analysis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acyl-tRNA Synthetases / genetics*
  • Anticodon
  • Brain / abnormalities*
  • Child
  • Family
  • Genetic Predisposition to Disease
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Microcephaly / genetics*
  • Microcephaly / pathology
  • Mutation*
  • Phenotype

Substances

  • Anticodon
  • Amino Acyl-tRNA Synthetases