Article
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
PLoS genetics - 1 Mar 2015
Simon Mariella, Richard Elodie M, Wang Xinjian, Shahzad Mohsin, Huang Vincent H, Qaiser Tanveer A, Potluri Prasanth, Mahl Sarah E, Davila Antonio, Nazli Sabiha, Hancock Saege, Yu Margret, Gargus Jay, Chang Richard, Al-Sheqaih Nada, Newman William G, Abdenur Jose, Starr Arnold, Hegde Rashmi, Dorn Thomas, Busch Anke, Park Eddie, Wu Jie, Schwenzer Hagen, Flierl Adrian, Florentz Catherine, Sissler Marie, Khan Shaheen N, Li Ronghua, Guan Min-Xin, Friedman Thomas B, Wu Doris K, Procaccio Vincent, Riazuddin Sheikh, Wallace Douglas C, Ahmed Zubair M, Huang Taosheng, Riazuddin Saima
Abstract excerpt
Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing loss (DFNB94) and compound heterozygous mutations ([c.969T>A; p.Tyr323*] + [c.1142A>G; p.Asn381Ser]) result in mitochondrial respiratory chain deficiency and Leigh...
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