{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T11:19:03Z","timestamp":1784027943447,"version":"3.55.0"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2019,5,10]],"date-time":"2019-05-10T00:00:00Z","timestamp":1557446400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81701133"],"award-info":[{"award-number":["81701133"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81322017"],"award-info":[{"award-number":["81322017"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81771230"],"award-info":[{"award-number":["81771230"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["U1505222"],"award-info":[{"award-number":["U1505222"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Joint Funds for the Innovation of Science and Technology, Fujian Province","award":["2017Y9087"],"award-info":[{"award-number":["2017Y9087"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Mol Neurosci"],"published-print":{"date-parts":[[2019,8]]},"DOI":"10.1007\/s12031-019-01319-7","type":"journal-article","created":{"date-parts":[[2019,5,10]],"date-time":"2019-05-10T13:42:26Z","timestamp":1557495746000},"page":"640-646","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4\u2013Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies"],"prefix":"10.1007","volume":"68","author":[{"given":"Xiao-Huan","family":"Zou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin-Xin","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui-Zhen","family":"Su","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"En-Lin","family":"Dong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ning","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wan-Jin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi-Jie","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,5,10]]},"reference":[{"key":"1319_CR1","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1186\/1471-2350-13-65","volume":"13","author":"GJ Almind","year":"2012","unstructured":"Almind GJ, Ek J, Rosenberg T, Eiberg H, Larsen M, Lucamp L, Brondum-Nielsen K, Gronskov K (2012) Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%. BMC Med Genet 13:65","journal-title":"BMC Med Genet"},{"issue":"5","key":"1319_CR2","doi-asserted-by":"publisher","first-page":"754","DOI":"10.1016\/j.ajhg.2015.09.012","volume":"97","author":"C Angebault","year":"2015","unstructured":"Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro-Megy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G (2015) Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies. Am J Hum Genet 97(5):754\u2013760","journal-title":"Am J Hum Genet"},{"issue":"1","key":"1319_CR3","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1001\/jamaneurol.2017.2065","volume":"75","author":"M Charif","year":"2018","unstructured":"Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, Bris C, Goudenege D, Legati A, Maroofian R, Shariati G, Lamantea E, Hopton S, Ardissone A, Moroni I, Giannotta M, Siegel C, Strom TM, Prokisch H, Vignal-Clermont C, Derrien S, Zanlonghi X, Kaplan J, Hamel CP, Leruez S, Procaccio V, Bonneau D, Reynier P, White FE, Hardy SA, Barbosa IA, Simpson MA, Vara R, Perdomo Trujillo Y, Galehdari H, Deshpande C, Haack TB, Rozet JM, Taylor RW, Ghezzi D, Amati-Bonneau P, Lenaers G (2018) Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults. JAMA Neurol 75(1):105\u2013113","journal-title":"JAMA Neurol"},{"issue":"6","key":"1319_CR4","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1097\/ICU.0000000000000314","volume":"27","author":"BY Chun","year":"2016","unstructured":"Chun BY, Rizzo JF 3rd (2016) Dominant optic atrophy: updates on the pathophysiology and clinical manifestations of the optic atrophy 1 mutation. Curr Opin Ophthalmol 27(6):475\u2013480","journal-title":"Curr Opin Ophthalmol"},{"issue":"4","key":"1319_CR5","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1016\/j.ajo.2006.12.038","volume":"143","author":"AC Cohn","year":"2007","unstructured":"Cohn AC, Toomes C, Potter C, Towns KV, Hewitt AW, Inglehearn CF, Craig JE, Mackey DA (2007) Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Am J Ophthalmol 143(4):656\u2013662","journal-title":"Am J Ophthalmol"},{"key":"1319_CR6","first-page":"1849","volume":"18","author":"J Desir","year":"2012","unstructured":"Desir J, Coppieters F, Van Regemorter N, De Baere E, Abramowicz M, Cordonnier M (2012) TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy. Mol Vis 18:1849\u20131857","journal-title":"Mol Vis"},{"issue":"4","key":"1319_CR7","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1016\/j.ajhg.2009.03.003","volume":"84","author":"S Hanein","year":"2009","unstructured":"Hanein S, Perrault I, Roche O, Gerber S, Khadom N, Rio M, Boddaert N, Jean-Pierre M, Brahimi N, Serre V, Chretien D, Delphin N, Fares-Taie L, Lachheb S, Rotig A, Meire F, Munnich A, Dufier JL, Kaplan J, Rozet JM (2009) TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. Am J Hum Genet 84(4):493\u2013498","journal-title":"Am J Hum Genet"},{"key":"1319_CR8","doi-asserted-by":"crossref","unstructured":"Hartmann B, Wai T, Hu H, MacVicar T, Musante L, Fischer-Zirnsak B, Stenzel W, Graf R, van den Heuvel L, Ropers HH, Wienker TF, Hubner C, Langer T, Kaindl AM (2016) Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation. eLife,5,(2016-07-28), 2016, 5.","DOI":"10.7554\/eLife.16078"},{"issue":"1","key":"1319_CR9","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1046\/j.1471-4159.2002.00788.x","volume":"81","author":"WH Hu","year":"2002","unstructured":"Hu WH, Hausmann ON, Yan MS, Walters WM, Wong PK, Bethea JR (2002) Identification and characterization of a novel Nogo-interacting mitochondrial protein (NIMP). J Neurochem 81(1):36\u201345","journal-title":"J Neurochem"},{"issue":"3","key":"1319_CR10","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1038\/s41431-018-0235-y","volume":"27","author":"Neringa Jurkute","year":"2018","unstructured":"Jurkute N, Majander A, Bowman R, Votruba M, Abbs S, Acheson J, Lenaers G, Amati-Bonneau P, Moosajee M, Arno G, Yu-Wai-Man P (2019) Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches. Eur J Hum Genet 27(3):494-502","journal-title":"European Journal of Human Genetics"},{"key":"1319_CR11","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1186\/1750-1172-7-46","volume":"7","author":"G Lenaers","year":"2012","unstructured":"Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D (2012) Dominant optic atrophy. Orphanet J Rare Dis 7:46","journal-title":"Orphanet J Rare Dis"},{"issue":"12","key":"1319_CR12","doi-asserted-by":"publisher","first-page":"834","DOI":"10.1136\/jmedgenet-2014-102532","volume":"51","author":"MD Metodiev","year":"2014","unstructured":"Metodiev MD, Gerber S, Hubert L, Delahodde A, Chretien D, Gerard X, Amati-Bonneau P, Giacomotto MC, Boddaert N, Kaminska A, Desguerre I, Amiel J, Rio M, Kaplan J, Munnich A, Rotig A, Rozet JM, Besmond C (2014) Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. J Med Genet 51(12):834\u2013838","journal-title":"J Med Genet"},{"key":"1319_CR13","first-page":"650","volume":"16","author":"E Meyer","year":"2010","unstructured":"Meyer E, Michaelides M, Tee LJ, Robson AG, Rahman F, Pasha S, Luxon LM, Moore AT, Maher ER (2010) Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy. Mol Vis 16:650\u2013664","journal-title":"Mol Vis"},{"issue":"10","key":"1319_CR14","doi-asserted-by":"publisher","first-page":"927","DOI":"10.1038\/jhg.2017.68","volume":"62","author":"N Okamoto","year":"2017","unstructured":"Okamoto N, Miya F, Hatsukawa Y, Suzuki Y, Kawato K, Yamamoto Y, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K (2017) Siblings with optic neuropathy and RTN4IP1 mutation. J Hum Genet 62(10):927\u2013929","journal-title":"J Hum Genet"},{"issue":"3","key":"1319_CR15","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1016\/j.ajhg.2012.01.009","volume":"90","author":"R Spiegel","year":"2012","unstructured":"Spiegel R, Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J, Edvardson S, Mahajna M, Zenvirt S, Saada A, Shalev S, Feuk L, Elpeleg O (2012) Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. Am J Hum Genet 90(3):518\u2013523","journal-title":"Am J Hum Genet"},{"issue":"9","key":"1319_CR16","doi-asserted-by":"publisher","first-page":"840","DOI":"10.1177\/0883073817711527","volume":"32","author":"S Srivastava","year":"2017","unstructured":"Srivastava S, Gubbels CS, Dies K, Fulton A, Yu T, Sahin M (2017) Increased survival and partly preserved cognition in a patient with ACO2-related disease secondary to a novel variant. J Child Neurol 32(9):840\u2013845","journal-title":"J Child Neurol"},{"issue":"5","key":"1319_CR17","doi-asserted-by":"publisher","first-page":"578","DOI":"10.1055\/s-0035-1563574","volume":"35","author":"P Yu-Wai-Man","year":"2015","unstructured":"Yu-Wai-Man P (2015) Therapeutic approaches to inherited optic neuropathies. Semin Neurol 35(5):578\u2013586","journal-title":"Semin Neurol"},{"issue":"8","key":"1319_CR18","doi-asserted-by":"publisher","first-page":"1712","DOI":"10.1016\/j.ophtha.2013.04.022","volume":"120","author":"P Yu-Wai-Man","year":"2013","unstructured":"Yu-Wai-Man P, Chinnery PF (2013) Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates. Ophthalmology 120(8):1712\u20131712 e1711","journal-title":"Ophthalmology"},{"issue":"2","key":"1319_CR19","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1086\/346066","volume":"72","author":"P Yu-Wai-Man","year":"2003","unstructured":"Yu-Wai-Man P, Griffiths PG, Brown DT, Howell N, Turnbull DM, Chinnery PF (2003) The epidemiology of Leber hereditary optic neuropathy in the north east of England. Am J Hum Genet 72(2):333\u2013339","journal-title":"Am J Hum Genet"},{"issue":"5","key":"1319_CR20","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1038\/eye.2014.37","volume":"28","author":"P Yu-Wai-Man","year":"2014","unstructured":"Yu-Wai-Man P, Votruba M, Moore AT, Chinnery PF (2014) Treatment strategies for inherited optic neuropathies: past, present and future. Eye (Lond) 28(5):521\u2013537","journal-title":"Eye (Lond)"},{"issue":"6","key":"1319_CR21","doi-asserted-by":"publisher","first-page":"789","DOI":"10.1007\/s00401-016-1625-2","volume":"132","author":"P Yu-Wai-Man","year":"2016","unstructured":"Yu-Wai-Man P, Votruba M, Burte F, La Morgia C, Barboni P, Carelli V (2016) A neurodegenerative perspective on mitochondrial optic neuropathies. Acta Neuropathol 132(6):789\u2013806","journal-title":"Acta Neuropathol"},{"issue":"4","key":"1319_CR22","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1097\/WNR.0b013e32835e2e44","volume":"24","author":"QJ Zhang","year":"2013","unstructured":"Zhang QJ, He J, Ni W, Lin X, Yao XP, Lin MT, Murong SX, Wang N, Chen WJ (2013) Noninvasive urine-derived cell lines derived from neurological genetic patients. Neuroreport 24(4):161\u2013166","journal-title":"Neuroreport"},{"issue":"3","key":"1319_CR23","doi-asserted-by":"publisher","first-page":"1993","DOI":"10.3892\/etm.2017.4791","volume":"14","author":"QJ Zhang","year":"2017","unstructured":"Zhang QJ, Lin X, Li JJ, Lu YQ, Guo XX, Dong EL, Zhao M, He J, Wang N, Chen WJ (2017) Application of urine cells in drug intervention for spinal muscular atrophy. Exp Ther Med 14(3):1993\u20131998","journal-title":"Exp Ther Med"}],"updated-by":[{"DOI":"10.1007\/s12031-019-01440-7","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2020,1,11]],"date-time":"2020-01-11T00:00:00Z","timestamp":1578700800000}}],"container-title":["Journal of Molecular Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-019-01319-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12031-019-01319-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-019-01319-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,8]],"date-time":"2020-05-08T19:30:21Z","timestamp":1588966221000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12031-019-01319-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5,10]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2019,8]]}},"alternative-id":["1319"],"URL":"https:\/\/doi.org\/10.1007\/s12031-019-01319-7","relation":{"correction":[{"id-type":"doi","id":"10.1007\/s12031-019-01440-7","asserted-by":"object"}]},"ISSN":["0895-8696","1559-1166"],"issn-type":[{"value":"0895-8696","type":"print"},{"value":"1559-1166","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,5,10]]},"assertion":[{"value":"5 September 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 April 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 May 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 January 2020","order":4,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":5,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The original version of this article unfortunately contained mistakes in the affiliation section.","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and\/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. This article does not contain any studies with animals performed by any of the authors.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}},{"value":"Informed consent was obtained from the parents of the children.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed Consent"}}]}}