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Article

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

Neurogenetics - 1 Apr 2015

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

Abstract excerpt

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...

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PMID: 25432320
DOI: 10.1007/s10048-014-0432-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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