Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

@article{Zhang2014MutationsIQ,
  title={Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.},
  author={Xiaochang Zhang and J. Ling and G. Barcia and Lili Jing and J. Wu and B. Barry and G. Mochida and R. S. Hill and J. Weimer and Quinn P. Stein and A. Poduri and J. N. Partlow and D. Ville and O. Dulac and Tim W Yu and A. Lam and S. Servattalab and J. Rodr{\'i}guez and N. Boddaert and A. Munnich and L. Colleaux and L. Zon and D. S{\"o}ll and C. Walsh and R. Nabbout},
  journal={American journal of human genetics},
  year={2014},
  volume={94 4},
  pages={
          547-58
        }
}
  • Xiaochang Zhang, J. Ling, +22 authors R. Nabbout
  • Published 2014
  • Biology, Medicine
  • American journal of human genetics
  • Progressive microcephaly is a heterogeneous condition with causes including mutations in genes encoding regulators of neuronal survival. Here, we report the identification of mutations in QARS (encoding glutaminyl-tRNA synthetase [QARS]) as the causative variants in two unrelated families affected by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres. Whole-exome sequencing of individuals… CONTINUE READING
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