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Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.

Neurogenetics - 1 Jul 2017

Leshinsky-Silver Esther, Ling Jiqiang, Wu Jiang, Vinkler Chana, Yosovich Keren, Bahar Sarit, Yanoov-Sharav Miri, Lerman-Sagie Tally, Lev Dorit

Abstract excerpt

Glutaminyl tRNA synthase is highly expressed in the developing fetal human brain. Mutations in the glutaminyl-tRNA synthetase (QARS) gene have been reported in patients with progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. We have previously reported a new recessive syndrome of severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features,...

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PMID: 28620870
DOI: 10.1007/s10048-017-0516-6

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Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.PMID 28620870Read ↗

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