Article
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
Human mutation - 1 Nov 2014
Schwartzentruber Jeremy, Buhas Daniela, Majewski Jacek, Sasarman Florin, Papillon-Cavanagh Simon, Thiffault Isabelle, Thiffaut Isabelle, Sheldon Katherine M, Massicotte Christine, Patry Lysanne, Simon Mariella, Zare Amir S, McKernan Kevin J, Michaud Jacques, Boles Richard G, Deal Cheri L, Desilets Valerie, Shoubridge Eric A, Samuels Mark E
Abstract excerpt
Mutations in the nuclear-encoded mitochondrial aminoacyl-tRNA synthetases are associated with a range of clinical phenotypes. Here, we report a novel disorder in three adult patients with a phenotype including cataracts, short-stature secondary to growth hormone deficiency, sensorineural hearing deficit, peripheral sensory neuropathy, and skeletal dysplasia. Using SNP genotyping and whole-exome sequencing, we...
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