{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T20:24:30Z","timestamp":1785183870777,"version":"3.55.0"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,1,7]],"date-time":"2025-01-07T00:00:00Z","timestamp":1736208000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,1,7]],"date-time":"2025-01-07T00:00:00Z","timestamp":1736208000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"name":"Partial financial support was received from Guangxi Zhuang Autonomous Region Clinical Key Specialty Construction Project","award":["GWYF202217"],"award-info":[{"award-number":["GWYF202217"]}]},{"name":"Partial financial support was received from Guangxi Zhuang Autonomous Region Clinical Key Specialty Construction Project","award":["GWYF202217"],"award-info":[{"award-number":["GWYF202217"]}]},{"name":"Partial financial support was received from Guangxi Zhuang Autonomous Region Clinical Key Specialty Construction Project","award":["GWYF202217"],"award-info":[{"award-number":["GWYF202217"]}]},{"name":"Partial financial support was received from Guangxi Zhuang Autonomous Region Clinical Key Specialty Construction Project","award":["GWYF202217"],"award-info":[{"award-number":["GWYF202217"]}]},{"name":"Partial financial support was received from Guangxi Zhuang Autonomous Region Clinical Key Specialty Construction Project","award":["GWYF202217"],"award-info":[{"award-number":["GWYF202217"]}]},{"name":"Partial financial support was received from Guangxi Zhuang Autonomous Region Clinical Key Specialty Construction Project","award":["GWYF202217"],"award-info":[{"award-number":["GWYF202217"]}]},{"name":"Partial financial support was received from Guangxi Zhuang Autonomous Region Clinical Key Specialty Construction Project","award":["GWYF202217"],"award-info":[{"award-number":["GWYF202217"]}]},{"name":"Partial financial support was received from Guangxi Zhuang Autonomous Region Clinical Key Specialty Construction Project","award":["GWYF202217"],"award-info":[{"award-number":["GWYF202217"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"DOI":"10.1007\/s10048-024-00797-1","type":"journal-article","created":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T21:29:22Z","timestamp":1736198962000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss"],"prefix":"10.1007","volume":"26","author":[{"given":"Mengyi","family":"Lu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiuyun","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lixiang","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yujie","family":"Qin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ni","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingbo","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,1,7]]},"reference":[{"key":"797_CR1","doi-asserted-by":"publisher","first-page":"206","DOI":"10.1016\/j.ymgme.2013.01.010","volume":"108","author":"S Konovalova","year":"2013","unstructured":"Konovalova S, Tyynismaa H (2013) Mitochondrial aminoacyl-tRNA synthetases in human disease. Mol Genet Metab 108:206\u2013211. https:\/\/doi.org\/10.1016\/j.ymgme.2013.01.010","journal-title":"Mol Genet Metab"},{"key":"797_CR2","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1093\/abbs\/gmn006","volume":"41","author":"W Zhou","year":"2009","unstructured":"Zhou W, Feng XL, Li H, Wang L, Zhu B, Liu WD et al (2009) Inactivation of, located at the commonly deleted region 3p21.3, by both epigenetic and genetic mechanisms in nasopharyngeal carcinoma. Acta Bioch Bioph Sin 41:54\u201362. https:\/\/doi.org\/10.1093\/abbs\/gmn006","journal-title":"Acta Bioch Bioph Sin"},{"key":"797_CR3","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1002\/ajmg.a.20616","volume":"128a","author":"A Fiumara","year":"2004","unstructured":"Fiumara A, Sorge G, Toscano A, Parano E, Pavone L, Opitz JM (2004) Perrault syndrome: Evidence for progressive nervous system involvement. Am J Med Genet A 128a:246\u2013249. https:\/\/doi.org\/10.1002\/ajmg.a.20616","journal-title":"Am J Med Genet A"},{"key":"797_CR4","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1007\/s00439-021-02319-7","volume":"141","author":"R Faridi","year":"2022","unstructured":"Faridi R, Rea A, Fenollar-Ferrer C, O\u2019Keefe RT, Gu SJ, Munir Z et al (2022) New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder. Hum Genet 141:805\u2013819. https:\/\/doi.org\/10.1007\/s00439-021-02319-7","journal-title":"Hum Genet"},{"key":"797_CR5","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1002\/ajmg.a.38552","volume":"176","author":"R Kosaki","year":"2018","unstructured":"Kosaki R, Horikawa R, Fujii E, Kosaki K (2018) Biallelic mutations in can cause Perrault syndrome type 2 with neurologic symptoms. Am J Med Genet A 176:404\u2013408. https:\/\/doi.org\/10.1002\/ajmg.a.38552","journal-title":"Am J Med Genet A"},{"key":"797_CR6","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"797_CR7","doi-asserted-by":"publisher","first-page":"1354","DOI":"10.1002\/humu.23120","volume":"37","author":"J Lerat","year":"2016","unstructured":"Lerat J, Jonard L, Loundon N, Christin-Maitre S, Lacombe D, Goizet C et al (2016) An application of NGS for molecular investigations in Perrault Syndrome: study of 14 families and review of the literature. Hum Mutat 37:1354\u20131362. https:\/\/doi.org\/10.1002\/humu.23120","journal-title":"Hum Mutat"},{"key":"797_CR8","doi-asserted-by":"publisher","first-page":"200","DOI":"10.1097\/Mcd.0000000000000198","volume":"26","author":"M Zerkaoui","year":"2017","unstructured":"Zerkaoui M, Demain LAM, Jaouad IC, Ratbi I, Amjoud K, Urquhart JE et al (2017) Marfanoid habitus is a nonspecific feature of Perrault syndrome. Clin Dysmorphol 26:200\u2013204. https:\/\/doi.org\/10.1097\/Mcd.0000000000000198","journal-title":"Clin Dysmorphol"},{"key":"797_CR9","doi-asserted-by":"publisher","first-page":"1425","DOI":"10.1002\/humu.24050","volume":"41","author":"LG Riley","year":"2020","unstructured":"Riley LG, Rudinger-Thirion J, Frugier M, Wilson M, Luig M, Alahakoon TI et al (2020) The expanding phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. Hum Mutat 41:1425\u20131434. https:\/\/doi.org\/10.1002\/humu.24050","journal-title":"Hum Mutat"},{"key":"797_CR10","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1038\/s41431-022-01252-1","volume":"31","author":"AS Neyroud","year":"2023","unstructured":"Neyroud AS, Rudinger-Thirion J, Frugier M, Riley LG, Bidet M, Akloul L et al (2023) variants can present as premature ovarian insufficiency in the absence of overt hearing loss. Eur J Hum Genet 31:453\u2013460. https:\/\/doi.org\/10.1038\/s41431-022-01252-1","journal-title":"Eur J Hum Genet"},{"key":"797_CR11","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1007\/s00439-021-02319-7","volume":"141","author":"R Faridi","year":"2021","unstructured":"Faridi R, Rea A, Fenollar-Ferrer C, O\u2019Keefe RT, Gu S, Munir Z et al (2021) New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder. Hum Genet 141:805\u2013819. https:\/\/doi.org\/10.1007\/s00439-021-02319-7","journal-title":"Hum Genet"},{"key":"797_CR12","doi-asserted-by":"publisher","first-page":"605","DOI":"10.1016\/j.ajhg.2013.02.013","volume":"92","author":"M Jenkinson Emma","year":"2013","unstructured":"Jenkinson Emma M, RehmanAtteeq U, Walsh T, Clayton-Smith J, Lee K, Morell Robert J et al (2013) Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet 92:605\u2013613. https:\/\/doi.org\/10.1016\/j.ajhg.2013.02.013","journal-title":"Am J Hum Genet"},{"key":"797_CR13","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1002\/ana.25772","volume":"88","author":"AR Foley","year":"2020","unstructured":"Foley AR, Zou Y, Dunford JE, Rooney J, Chandra G, Xiong H et al (2020) GGPS1 mutations cause muscular dystrophy\/hearing loss\/ovarian insufficiency syndrome. Ann Neurol 88:332\u2013347. https:\/\/doi.org\/10.1002\/ana.25772","journal-title":"Ann Neurol"},{"key":"797_CR14","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1186\/s12967-017-1129-4","volume":"15","author":"M O\u0142dak","year":"2017","unstructured":"O\u0142dak M, Ozi\u0119b\u0142o D, Pollak A, St\u0119pniak I, Lazniewski M, Lechowicz U et al (2017) Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome. J Transl Med 15:25\u201338. https:\/\/doi.org\/10.1186\/s12967-017-1129-4","journal-title":"J Transl Med"},{"key":"797_CR15","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1111\/ahg.12384","volume":"84","author":"F Gotta","year":"2020","unstructured":"Gotta F, Lamp M, Geroldi A, Trevisan L, Origone P, Fugazza G et al (2020) A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? Ann Hum Genet 84:417\u2013422. https:\/\/doi.org\/10.1111\/ahg.12384","journal-title":"Ann Hum Genet"},{"key":"797_CR16","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1007\/s11154-023-09809-1","volume":"24","author":"MH Li","year":"2023","unstructured":"Li MH, Popovic N, Wang Y, Chen CB, Polychronakos C (2023) Incomplete penetrance and variable expressivity in monogenic diabetes; a challenge but also an opportunity. Rev Endocr Metab Dis 24:673\u2013684. https:\/\/doi.org\/10.1007\/s11154-023-09809-1","journal-title":"Rev Endocr Metab Dis"},{"key":"797_CR17","doi-asserted-by":"publisher","first-page":"678","DOI":"10.3389\/fgene.2020.00678","volume":"11","author":"AA Eshraghi","year":"2020","unstructured":"Eshraghi AA, Polineni SP, Davies C, Shahal D, Mittal J, Al-Zaghal Z et al (2020) Genotype-phenotype correlation for predicting cochlear implant outcome: Current challenges and opportunities. Front Genet 11:678. https:\/\/doi.org\/10.3389\/fgene.2020.00678","journal-title":"Front Genet"},{"key":"797_CR18","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1002\/lio2.288","volume":"4","author":"AE Shearer","year":"2019","unstructured":"Shearer AE, Hansen MR (2019) Auditory synaptopathy, auditory neuropathy, and cochlear implantation. Laryngoscope Invest 4:429\u2013440. https:\/\/doi.org\/10.1002\/lio2.288","journal-title":"Laryngoscope Invest"},{"key":"797_CR19","doi-asserted-by":"publisher","first-page":"E1225","DOI":"10.1212\/Wnl.0000000000007098","volume":"92","author":"der van Knaap","year":"2019","unstructured":"van Knaap der, M S, M Bugiani et al (2019) Biallelic variants in LARS2 and KARS cause deafness and (ovario) leukodystrophy. Neurology 92:E1225\u2013E1237. https:\/\/doi.org\/10.1212\/Wnl.0000000000007098","journal-title":"Neurology"},{"key":"797_CR20","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1186\/s12881-020-01028-8","volume":"21","author":"MT Carminho-Rodrigues","year":"2020","unstructured":"Carminho-Rodrigues MT, Klee P, Laurent S, Guipponi M, Abramowicz M, Cao-van H et al (2020) Perrault syndrome: a new case report and literature review. Bmc Med Genet 21:109. https:\/\/doi.org\/10.1186\/s12881-020-01028-8","journal-title":"Bmc Med Genet"},{"key":"797_CR21","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1038\/jhg.2015.149","volume":"61","author":"G Sold\u00e0","year":"2016","unstructured":"Sold\u00e0 G, Caccia S, Robusto M, Chiereghin C, Castorina P, Ambrosetti U et al (2016) First independent replication of the involvement of in Perrault syndrome by whole-exome sequencing of an Italian family. J Hum Genet 61:295\u2013300. https:\/\/doi.org\/10.1038\/jhg.2015.149","journal-title":"J Hum Genet"},{"key":"797_CR22","doi-asserted-by":"publisher","first-page":"18100","DOI":"10.1038\/s41598-020-75238-8","volume":"10","author":"SJ Gu","year":"2020","unstructured":"Gu SJ, Olszewski R, Taukulis I, Wei Z, Martin D, Morell RJ, Hoa M (2020) Characterization of rare spindle and root cell transcriptional profiles in the stria vascularis of the adult mouse cochlea. Sci Rep-Uk 10:18100. https:\/\/doi.org\/10.1038\/s41598-020-75238-8","journal-title":"Sci Rep-Uk"},{"key":"797_CR23","doi-asserted-by":"publisher","first-page":"926","DOI":"10.1093\/humrep\/dew027","volume":"31","author":"L Webber","year":"2016","unstructured":"Webber L, Davies M, Anderson R, Bartlett J, Braat D, Cartwright B et al (2016) ESHRE Guideline: management of women with premature ovarian insufficiency. Hum Reprod 31:926\u2013937. https:\/\/doi.org\/10.1093\/humrep\/dew027","journal-title":"Hum Reprod"},{"key":"797_CR24","doi-asserted-by":"publisher","first-page":"E994","DOI":"10.1210\/jc.2012-1245","volume":"97","author":"JE Pinsker","year":"2012","unstructured":"Pinsker JE (2012) Turner syndrome: updating the paradigm of clinical care. J Clin Endocr Metab 97:E994\u2013E1003. https:\/\/doi.org\/10.1210\/jc.2012-1245","journal-title":"J Clin Endocr Metab"},{"key":"797_CR25","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1210\/jc.2006-1374","volume":"92","author":"CA Bondy","year":"2007","unstructured":"Bondy CA, Grp TSS (2007) Clinical practice guideline - Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group. J Clin Endocr Metab 92:10\u201325. https:\/\/doi.org\/10.1210\/jc.2006-1374","journal-title":"J Clin Endocr Metab"}],"container-title":["Neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-024-00797-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10048-024-00797-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-024-00797-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T04:05:45Z","timestamp":1769400345000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10048-024-00797-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,7]]},"references-count":25,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["797"],"URL":"https:\/\/doi.org\/10.1007\/s10048-024-00797-1","relation":{},"ISSN":["1364-6753"],"issn-type":[{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,7]]},"assertion":[{"value":"28 November 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 December 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 January 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"17"}}