Genotype-phenotype associations in QARS variants


  • People with pathogenic variants of glutaminyl-tRNA synthetase (QARS) can have a broad range of phenotypes, and any child presenting with a core triad of microcephaly, intellectual disability (ID), and early-onset epilepsy should be tested for QARS variants.

Why this matters

  • QARS is essential for translation of messenger ribonucleic acid (mRNA) to proteins, and people with variations of this protein have severe epilepsy, severe ID, and progressive microcephaly.

  • Further understanding the genotype-phenotype interactions of this disease may improve clinical treatment and outcomes.