{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T01:06:28Z","timestamp":1789607188248,"version":"build-2803163510"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2015,12,10]],"date-time":"2015-12-10T00:00:00Z","timestamp":1449705600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2015,12,10]],"date-time":"2015-12-10T00:00:00Z","timestamp":1449705600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2016,4]]},"DOI":"10.1038\/jhg.2015.149","type":"journal-article","created":{"date-parts":[[2015,12,10]],"date-time":"2015-12-10T02:20:49Z","timestamp":1449714049000},"page":"295-300","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family"],"prefix":"10.1038","volume":"61","author":[{"given":"Giulia","family":"Sold\u00e0","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Caccia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Robusto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Chiereghin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierangela","family":"Castorina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umberto","family":"Ambrosetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Duga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosanna","family":"Asselta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,12,10]]},"reference":[{"key":"BFjhg2015149_CR1","first-page":"79","volume":"16","author":"M Perrault","year":"1951","unstructured":"Perrault, M., Klotz, B. & Housset, E. Deux cas de syndrome de Turner avec surdi-mutit\u00e9 dans une meme fratrie. Bull. Mem. Soc. Med. Hop. Paris 16, 79\u201384 (1951).","journal-title":"Bull. Mem. Soc. Med. Hop. Paris"},{"key":"BFjhg2015149_CR2","volume-title":"GeneReviews Internet","author":"WG Newman","year":"2014","unstructured":"Newman, W. G., Friedman, T. B., Conway, G. S . in GeneReviews Internet (eds Pagon, R. A., Adam, M. P., Ardinger, H. H., Wallace, S. E., Amemiya, A, Bean, L. J. H et al. 1993\u20132015 (University of Washington, Seattle, USA, 2014) Available at http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK242617\/."},{"key":"BFjhg2015149_CR3","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1016\/j.ajhg.2010.07.007","volume":"87","author":"SB Pierce","year":"2010","unstructured":"Pierce, S. B., Walsh, T., Chisholm, K. M., Lee, M. K., Thornton, A. M., Fiumara, A. et al. Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am. J. Hum. Genet. 87, 282\u2013288 (2010).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg2015149_CR4","doi-asserted-by":"publisher","first-page":"6543","DOI":"10.1073\/pnas.1103471108","volume":"108","author":"SB Pierce","year":"2011","unstructured":"Pierce, S. B., Chisholm, K. M., Lynch, E. D., Lee, M. K., Walsh, T., Opitz, J. M. et al. Mutations in mitochondrial histidyltRNAsynthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. Proc. Natl Acad. Sci. USA 108, 6543\u20136548 (2011).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFjhg2015149_CR5","doi-asserted-by":"publisher","first-page":"605","DOI":"10.1016\/j.ajhg.2013.02.013","volume":"92","author":"EM Jenkinson","year":"2013","unstructured":"Jenkinson, E. M., Rehman, A. U., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R. J. et al. Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am. J. Hum. Genet. 92, 605\u2013613 (2013).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg2015149_CR6","doi-asserted-by":"publisher","first-page":"614","DOI":"10.1016\/j.ajhg.2013.03.007","volume":"92","author":"SB Pierce","year":"2013","unstructured":"Pierce, S. B., Gersak, K., Michaelson-Cohen, R., Walsh, T., Lee, M. K., Malach, D. et al. Mutations in LARS2, encoding mitochondrial leucyl-tRNAsynthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am. J. Hum. Genet. 92, 614\u2013620 (2013).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg2015149_CR7","doi-asserted-by":"publisher","first-page":"2054","DOI":"10.1212\/WNL.0000000000001036","volume":"83","author":"H Morino","year":"2014","unstructured":"Morino, H., Pierce, S. B., Matsuda, Y., Walsh, T., Ohsawa, R., Newby, M. et al. Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. Neurology 83, 2054\u20132061 (2014).","journal-title":"Neurology"},{"key":"BFjhg2015149_CR8","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1016\/j.jns.2015.04.038","volume":"353","author":"S Ahmed","year":"2015","unstructured":"Ahmed, S., Jelani, M., Alrayes, N., Mohamoud, H. S, Almramhi, M. M., Anshasi, W. et al. Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3. J. Neurol. Sci. 353, 149\u2013154 (2015).","journal-title":"J. Neurol. Sci."},{"key":"BFjhg2015149_CR9","doi-asserted-by":"publisher","first-page":"S11","DOI":"10.1186\/1471-2105-14-S7-S11","volume":"14","author":"M D'Antonio","year":"2013","unstructured":"D'Antonio, M., D'Onorio De Meo, P., Paoletti, D., Elmi, B., Pallocca, M., Sanna, N. et al. WEP: a high-performance analysis pipeline for whole-exome data. BMC Bioinformatics 14, S11 (2013).","journal-title":"BMC Bioinformatics"},{"key":"BFjhg2015149_CR10","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1038\/nrg3031","volume":"12","author":"MJ Bamshad","year":"2011","unstructured":"Bamshad, M. J., Ng, S. B, Bigham, A. W., Tabor, H. K., Emond, M. J., Nickerson, D. A. et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet. 12, 745\u2013755 (2011).","journal-title":"Nat. Rev. Genet."},{"key":"BFjhg2015149_CR11","doi-asserted-by":"publisher","first-page":"W452","DOI":"10.1093\/nar\/gks539","volume":"40","author":"NL Sim","year":"2012","unstructured":"Sim, N. L., Kumar, P., Hu, J., Henikoff, S., Schneider, G. & Ng, P. C. SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res. 40, W452\u2013W457 (2012).","journal-title":"Nucleic Acids Res."},{"key":"BFjhg2015149_CR12","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1038\/nmeth.2890","volume":"11","author":"JM Schwarz","year":"2014","unstructured":"Schwarz, J. M., Cooper, D. N., Schuelke, M. & Seelow, D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat. Methods 11, 361\u2013362 (2014).","journal-title":"Nat. Methods"},{"key":"BFjhg2015149_CR13","doi-asserted-by":"publisher","first-page":"7.20.1","DOI":"10.1002\/0471142905.hg0720s76","volume":"76","author":"I Adzhubei","year":"2013","unstructured":"Adzhubei, I., Jordan, D. M. & Sunyaev, S.R. Predicting functional effect of human missense mutations using PolyPhen-2. Curr. Protoc. Hum. Genet. 76, 7.20.1\u20137.20.41 (2013).","journal-title":"Curr. Protoc. Hum. Genet."},{"key":"BFjhg2015149_CR14","doi-asserted-by":"publisher","first-page":"e118","DOI":"10.1093\/nar\/gkr407","volume":"39","author":"B Reva","year":"2011","unstructured":"Reva, B., Antipin, Y. & Sander, C. Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Res. 39, e118 (2011).","journal-title":"Nucleic Acids Res."},{"key":"BFjhg2015149_CR15","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1002\/humu.22225","volume":"34","author":"HA Shihab","year":"2013","unstructured":"Shihab, H. A., Gough, J., Cooper, D. N., Stenson, P. D., Barker, G. L. A., Edwards, K. J. et al. Predicting the functional, molecular and phenotypic consequences of amino acid substitutions using hidden Markov models. Hum. Mutat. 34, 57\u201365 (2013).","journal-title":"Hum. Mutat."},{"key":"BFjhg2015149_CR16","doi-asserted-by":"publisher","first-page":"1553","DOI":"10.1101\/gr.092619.109","volume":"19","author":"S Chun","year":"2009","unstructured":"Chun, S. & Fay, J. C. Identification of deleterious mutations within three human genomes. Genome Res. 19, 1553\u20131561 (2009).","journal-title":"Genome Res."},{"key":"BFjhg2015149_CR17","doi-asserted-by":"publisher","first-page":"440","DOI":"10.1016\/j.ajhg.2011.03.004","volume":"88","author":"A Gonz\u00e1lez-P\u00e9rez","year":"2011","unstructured":"Gonz\u00e1lez-P\u00e9rez, A. & L\u00f3pez-Bigas, N. Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. Am. J. Hum. Genet. 88, 440\u2013449 (2011).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg2015149_CR18","doi-asserted-by":"publisher","first-page":"766","DOI":"10.1038\/ejhg.2014.168","volume":"23","author":"M Robusto","year":"2015","unstructured":"Robusto, M., Fang, M., Asselta, R., Castorina, P., Previtali, S. C., Caccia, S. et al. The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy. Eur. J. Hum. Genet. 23, 766\u2013773 (2015).","journal-title":"Eur. J. Hum. Genet."},{"key":"BFjhg2015149_CR19","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1038\/nmeth.1818","volume":"9","author":"M Remmert","year":"2011","unstructured":"Remmert, M., Biegert, A., Hauser, A. & S\u00f6ding, J. HHblits: lightning-fast iterative protein sequence searching by HMM-HMM alignment. Nat. Methods 9, 173\u2013175 (2011).","journal-title":"Nat. Methods"},{"key":"BFjhg2015149_CR20","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1038\/nmeth.3213","volume":"12","author":"J Yang","year":"2015","unstructured":"Yang, J., Yan, R., Roy, A., Xu, D., Poisson, J. & Zhang, Y. The I-TASSER Suite: protein structure and function prediction. Nat. Methods 12, 7\u20138 (2015).","journal-title":"Nat. Methods"},{"key":"BFjhg2015149_CR21","doi-asserted-by":"publisher","first-page":"677","DOI":"10.1038\/nsmb.2317","volume":"19","author":"A Palencia","year":"2012","unstructured":"Palencia, A., Cr\u00e9pin, T., Vu, M. T., Lincecum, T. L. Jr., Martinis, S. A. & Cusack, S. Structural dynamics of the aminoacylation and proofreading functional cycle of bacterial leucyl-tRNAsynthetase. Nat. Struct. Mol. Biol. 19, 677\u2013684 (2012).","journal-title":"Nat. Struct. Mol. Biol."},{"key":"BFjhg2015149_CR22","doi-asserted-by":"publisher","first-page":"3010","DOI":"10.1021\/bi047901v","volume":"44","author":"SW Lue","year":"2005","unstructured":"Lue, S. W. & Kelley, S. O. An aminoacyl-tRNAsynthetase with a defunct editing site. Biochemistry 44, 3010\u20133016 (2005).","journal-title":"Biochemistry"},{"key":"BFjhg2015149_CR23","doi-asserted-by":"publisher","first-page":"1639","DOI":"10.15252\/embj.201488199","volume":"33","author":"N Cvetesic","year":"2014","unstructured":"Cvetesic, N., Palencia, A., Halasz, I., Cusack, S. & Gruic-Sovulj, I. The physiological target for LeuRS translational quality control is norvaline. EMBO J. 33, 1639\u20131653 (2014).","journal-title":"EMBO J."},{"key":"BFjhg2015149_CR24","doi-asserted-by":"publisher","first-page":"e75376","DOI":"10.1371\/journal.pone.0075376","volume":"8","author":"RA Dunlop","year":"2013","unstructured":"Dunlop, R. A., Cox, P. A., Banack, S. A. & Rodgers, K. J. The non-protein amino acid BMAA is misincorporated into human proteins in place of L-serine causing protein misfolding and aggregation. PLoS ONE 8, e75376 (2013).","journal-title":"PLoS ONE"},{"key":"BFjhg2015149_CR25","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1002\/emmm.201100626","volume":"5","author":"P Yao","year":"2013","unstructured":"Yao, P. & Fox, P. L. Aminoacyl-tRNAsynthetases in medicine and disease. EMBO Mol. Med. 5, 332\u2013343 (2013).","journal-title":"EMBO Mol. Med."},{"key":"BFjhg2015149_CR26","doi-asserted-by":"publisher","first-page":"21","DOI":"10.3389\/fgene.2015.00021","volume":"6","author":"L Euro","year":"2015","unstructured":"Euro, L., Konovalova, S., Asin-Cayuela, J., Tulinius, M., Griffin, H., Horvath, R. et al. Structural modeling of tissue-specific mitochondrial alanyl-tRNAsynthetase (AARS2) defects predicts differential effects on aminoacylation. Front. Genet. 6, 21 (2015).","journal-title":"Front. Genet."},{"key":"BFjhg2015149_CR27","doi-asserted-by":"publisher","first-page":"2063","DOI":"10.1212\/WNL.0000000000000497","volume":"82","author":"C Dallabona","year":"2014","unstructured":"Dallabona, C., Diodato, D., Kevelam, S. H., Haack, T. B., Wong, L. J., Salomons, G. S. et al. Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology 82, 2063\u20132071 (2014).","journal-title":"Neurology"},{"key":"BFjhg2015149_CR28","first-page":"1285","volume":"35","author":"J Schwartzentruber","year":"2014","unstructured":"Schwartzentruber, J., Buhas, D., Majewski, J., Sasarman, F., Papillon-Cavanagh, S., Thiffault, I. et al. 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. Hum. Mutat. 35, 1285\u20131289 (2014).","journal-title":"Hum. Mutat."},{"key":"BFjhg2015149_CR29","doi-asserted-by":"publisher","first-page":"e1005097","DOI":"10.1371\/journal.pgen.1005097","volume":"11","author":"M Simon","year":"2015","unstructured":"Simon, M., Richard, E. M., Wang, X., Shahzad, M., Huang, V. H., Qaiser, T. A. et al. Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. PLoS Genet. 11, e1005097 (2015).","journal-title":"PLoS Genet."},{"key":"BFjhg2015149_CR30","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1016\/j.ajhg.2013.05.018","volume":"93","author":"RL Santos-Cortez","year":"2013","unstructured":"Santos-Cortez, R. L., Lee, K., Azeem, Z., Antonellis, P. J., Pollock, L. M., Khan, S. et al. Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. Am. J. Hum. Genet. 93, 132\u2013140 (2013).","journal-title":"Am. J. Hum. Genet."}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg2015149.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg2015149","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg2015149.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T13:34:11Z","timestamp":1684416851000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg2015149"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,12,10]]},"references-count":30,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,4]]}},"alternative-id":["BFjhg2015149"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2015.149","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,12,10]]},"assertion":[{"value":"4 September 2015","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 November 2015","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 November 2015","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 December 2015","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}