Article
Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.
Human genetics - 1 Apr 2018
Stephen Joshi, Nampoothiri Sheela, Banerjee Aditi, Tolman Nathanial J, Penninger Josef Martin, Elling Ullrich, Agu Chukwuma A, Burke John D, Devadathan Kalpana, Kannan Rajesh, Huang Yan, Steinbach Peter J, Martinis Susan A, Gahl William A, Malicdan May Christine V
Abstract excerpt
Progressive microcephaly and neurodegeneration are genetically heterogenous conditions, largely associated with genes that are essential for the survival of neurons. In this study, we interrogate the genetic etiology of two siblings from a non-consanguineous family with severe early onset of neurological manifestations. Whole exome sequencing identified novel compound heterozygous mutations in VARS that...
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