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

Ramona Salvarinova, Cynthia X. Ye, Andrea Rossi, Roberta Biancheri, Elke H. Roland, Paul Pavlidis, Colin J. Ross, Maja Tarailo-Graovac, Wyeth W. Wasserman, Clara D M van Karnebeek

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)145-149
Number of pages5
JournalNeurogenetics
Volume16
Issue number2
DOIs
Publication statusPublished - 2015

Keywords

  • Cerebral atrophy
  • Developmental delay
  • Epilepsy
  • Genomics
  • Hypomyelination
  • Microcephaly

ASJC Scopus subject areas

  • Genetics(clinical)
  • Cellular and Molecular Neuroscience
  • Genetics
  • Medicine(all)

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