Literature summary for 6.1.1.5 extracted from

Schwartzentruber, J.; Buhas, D.; Majewski, J.; Sasarman, F.; Papillon-Cavanagh, S.; Thiffault, I.; Sheldon, K.; Massicotte, C.; Patry, L.; Simon, M.; Zare, A.; Mckernan, K.; Consortium, F.; Michaud, J.; Boles, R.; Deal, C.; Desilets, V.; Shoubridge, E.; Samuels, M.E.
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 (2015), Hum. Mutat., 36, 281-281 .

Cloned(Commentary)

Cloned (Comment)	Organism
gene IARS2, mitochondrial genome-encoded enzyme, genotyping	Homo sapiens

Protein Variants	Comment	Organism
E708K	naturally occuring mutation found in a heterozygous patient, the mutation is at the junction of the catalytic core domain and the anticodon-binding domain, and is predicted to be disease-causing	Homo sapiens
P909L	naturally occuring mutation causing the recessive disorder CAGSSS, phenotype, overview	Homo sapiens
W607X	naturally occuring mutation found in a heterozygous patient, the mutation truncates the protein removing 405 amino acids and is expected to be severely pathogenic	Homo sapiens

Localization	Comment	Organism	GeneOntology No.	Textmining
mitochondrion	-	Homo sapiens	5739	-

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9NSE4	-	-

Synonyms	Comment	Organism
IARS2	-	Homo sapiens
mitochondrial isoleucyl-tRNA synthetase	-	Homo sapiens

General Information	Comment	Organism
malfunction	mutations in the nuclear-encoded mitochondrial aminoacyltRNA synthetases are associated with a range of clinical phenotypes. A recessive disorder CAGSSS in three adult French-Canadian patients with a phenotype including cataracts, short-stature secondary to growth hormone deficiency, sensorineural hearing deficit, peripheral sensory neuropathy, and skeletal dysplasia is caused by a single missense mutation P909L in a conserved residue of the nuclear gene IARS2, encoding mitochondrial isoleucyl-tRNA synthetase. The mutation is homozygous in the affected patients, heterozygous in carriers, and absent in control chromosomes. IARS2 protein level is reduced in skin cells cultured from one of the patients, consistent with a pathogenic effect of the mutation. Compound heterozygous mutations in IARS2 are independently identified in a patient with a more severe mitochondrial phenotype diagnosed as Leigh syndrome. Phenotypes, overview	Homo sapiens