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

Volumn 35, Issue 11, 2014, Pages 1285-1289

  Schwartzentruber, Jeremy ^a   Buhas, Daniela ^b   Majewski, Jacek ^a   Sasarman, Florin ^a   Papillon Cavanagh, Simon ^a   Thiffaut, Isabelle ^a   Sheldon, Katherine M ^c   Massicotte, Christine ^d   Patry, Lysanne ^d   Simon, Mariella ^c   Zare, Amir S ^c   McKernan, Kevin J ^c   Boycott, Kym ^a,e   Friedman, Jan ^a,e   Michaud, Jacques ^a,d,e,f   Bernier, Francois ^a,e   Brudno, Michael ^a,e   Fernandez, Bridget ^a,e   Knoppers, Bartha ^a,e   Samuels, Mark ^a,e   Scherer, Steve ^a,e   Boles, Richard G ^c,g   Deal, Cheri L ^d   Desilets, Valerie ^d,f   Shoubridge, Eric A ^a   Samuels, Mark E ^d   more..

^a MCGILL UNIVERSITY   (Canada)

^b MONTREAL CHILDREN S HOSPITAL   (Canada)

^c Courtagen Life Sciences ^*  (United States)

^d UNIVERSITY OF MONTREAL   (Canada)

^e University of Southern California ^*  (Canada)

^f UNIVERSITÉ DE MONTRÉAL   (Canada)

^g UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

Exome sequencing; IARS2; Mitochondrial disorder; Mitochondrial tRNA synthetase

Indexed keywords

ISOLEUCINE TRANSFER RNA LIGASE;

ADULT; ARTICLE; CASE REPORT; CATARACT; CHILD; CHROMOSOME; EXOME; FEMALE; GENEALOGY; GENOTYPE; GROWTH HORMONE DEFICIENCY; HETEROZYGOTE; HUMAN; LEIGH DISEASE; MALE; MISSENSE MUTATION; MITOCHONDRIAL GENOME; MIXED HEARING LOSS; PERCEPTION DEAFNESS; PERIPHERAL NEUROPATHY; PHENOTYPE; PRESCHOOL CHILD; SHORT STATURE; SKIN CELL; AMINO ACID SEQUENCE; BRAIN; CHEMISTRY; CONSANGUINITY; DWARFISM, PITUITARY; GENETICS; HEARING LOSS, SENSORINEURAL; MOLECULAR GENETICS; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES; RECESSIVE GENE; SEQUENCE ALIGNMENT; SYNDROME;

ADULT; AMINO ACID SEQUENCE; BRAIN; CATARACT; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; DWARFISM, PITUITARY; FEMALE; GENES, RECESSIVE; HEARING LOSS, SENSORINEURAL; HUMANS; ISOLEUCINE-TRNA LIGASE; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; SEQUENCE ALIGNMENT; SYNDROME;

EID: 84917692573     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22629     Document Type: Article

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