Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

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...

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Main Authors: 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
Format: Online
Language:English
Published: Public Library of Science 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4373692/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4373692/

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