{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,13]],"date-time":"2026-06-13T03:51:46Z","timestamp":1781322706035,"version":"3.54.1"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,10,30]],"date-time":"2021-10-30T00:00:00Z","timestamp":1635552000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,10,30]],"date-time":"2021-10-30T00:00:00Z","timestamp":1635552000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"published-print":{"date-parts":[[2022,1]]},"DOI":"10.1007\/s10048-021-00675-0","type":"journal-article","created":{"date-parts":[[2021,10,30]],"date-time":"2021-10-30T03:30:44Z","timestamp":1635564644000},"page":"11-17","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype"],"prefix":"10.1007","volume":"23","author":[{"given":"Hongzhu","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niu","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yufei","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guoqiang","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cui","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ru-en","family":"Yao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingting","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,10,30]]},"reference":[{"key":"675_CR1","doi-asserted-by":"publisher","first-page":"888","DOI":"10.1016\/j.celrep.2018.03.089","volume":"23","author":"A Son","year":"2018","unstructured":"Son A, Park JE, Kim VN (2018) PARN and TOE1 constitute a 3\u2019 end maturation module for nuclear non-coding RNAs. Cell Rep 23:888\u2013898","journal-title":"Cell Rep"},{"key":"675_CR2","doi-asserted-by":"publisher","first-page":"989","DOI":"10.1101\/gad.336891.120","volume":"34","author":"RM Lardelli","year":"2020","unstructured":"Lardelli RM, Lykke-Andersen J (2020) Competition between maturation and degradation drives human snRNA 3\u2019 end quality control. Genes Dev 34:989\u20131001","journal-title":"Genes Dev"},{"key":"675_CR3","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1093\/nar\/gky1019","volume":"47","author":"T Deng","year":"2019","unstructured":"Deng T, Huang Y, Weng K, Lin S, Li Y, Shi G, Chen Y, Huang J, Liu D, Ma W et al (2019) TOE1 acts as a 3\u2019 exonuclease for telomerase RNA and regulates telomere maintenance. Nucleic Acids Res 47:391\u2013405","journal-title":"Nucleic Acids Res"},{"key":"675_CR4","doi-asserted-by":"publisher","first-page":"2165","DOI":"10.1016\/j.febslet.2009.06.004","volume":"583","author":"S Sperandio","year":"2009","unstructured":"Sperandio S, Tardito S, Surzycki A, Latterich M, de Belle I (2009) TOE1 interacts with p53 to modulate its transactivation potential. FEBS Lett 583:2165\u20132170","journal-title":"FEBS Lett"},{"key":"675_CR5","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1016\/j.cell.2011.11.057","volume":"148","author":"Y Jia","year":"2012","unstructured":"Jia Y, Mu JC, Ackerman SL (2012) Mutation of a U2 snRNA gene causes global disruption of alternative splicing and neurodegeneration. Cell 148:296\u2013308","journal-title":"Cell"},{"key":"675_CR6","doi-asserted-by":"publisher","first-page":"1113","DOI":"10.1038\/ng.204","volume":"40","author":"BS Budde","year":"2008","unstructured":"Budde BS, Namavar Y, Barth PG, Poll-The BT, Nurnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET et al (2008) tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet 40:1113\u20131118","journal-title":"Nat Genet"},{"key":"675_CR7","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1038\/ng.3762","volume":"49","author":"RM Lardelli","year":"2017","unstructured":"Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N et al (2017) Biallelic mutations in the 3\u2019 exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet 49:457\u2013464","journal-title":"Nat Genet"},{"key":"675_CR8","doi-asserted-by":"publisher","first-page":"667","DOI":"10.1002\/ajmg.a.33897","volume":"155A","author":"C Anderson","year":"2011","unstructured":"Anderson C, Davies JH, Lamont L, Foulds N (2011) Early pontocerebellar hypoplasia with vanishing testes: A new syndrome? Am J Med Genet A 155A:667\u2013672","journal-title":"Am J Med Genet A"},{"key":"675_CR9","doi-asserted-by":"publisher","first-page":"1935","DOI":"10.1038\/ijo.2016.160","volume":"40","author":"T Yu","year":"2016","unstructured":"Yu T, Li J, Li N, Liu R, Ding Y, Chang G, Chen Y, Shen Y, Wang X, Wang J (2016) Obesity and developmental delay in a patient with uniparental disomy of chromosome 2. Int J Obes (Lond) 40:1935\u20131941","journal-title":"Int J Obes (Lond)"},{"key":"675_CR10","doi-asserted-by":"crossref","unstructured":"Li, N., Chang, G., Xu, Y., Ding, Y., Li, G., Yu, T., Qing, Y., Li, J., Shen, Y., Wang, J. et al. (2017) Clinical and molecular characterization of patients with fructose 1,6-bisphosphatase deficiency. Int J Mol Sci, 18.","DOI":"10.3390\/ijms18040857"},{"key":"675_CR11","doi-asserted-by":"publisher","first-page":"D1039","DOI":"10.1093\/nar\/gkx1039","volume":"46","author":"J Li","year":"2018","unstructured":"Li J, Shi L, Zhang K, Zhang Y, Hu S, Zhao T, Teng H, Li X, Jiang Y, Ji L et al (2018) VarCards: an integrated genetic and clinical database for coding variants in the human genome. Nucleic Acids Res 46:D1039\u2013D1048","journal-title":"Nucleic Acids Res"},{"key":"675_CR12","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, Grody WW, Hegde M, Lyon E, Spector E 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","journal-title":"Genet Med"},{"key":"675_CR13","doi-asserted-by":"crossref","unstructured":"Nuovo, S., Micalizzi, A., Romaniello, R., Arrigoni, F., Ginevrino, M., Casella, A., Serpieri, V., D'Arrigo, S., Briguglio, M., Salerno, G.G. et al. (2021) Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study. J Med Genet.","DOI":"10.1136\/jmedgenet-2020-107497"},{"key":"675_CR14","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1186\/s13023-018-0826-2","volume":"13","author":"T van Dijk","year":"2018","unstructured":"van Dijk T, Baas F, Barth PG, Poll-The BT (2018) What\u2019s new in pontocerebellar hypoplasia? An update on genes and subtypes. Orphanet J Rare Dis 13:92","journal-title":"Orphanet J Rare Dis"},{"key":"675_CR15","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1007\/s12311-020-01135-5","volume":"19","author":"CT Rusch","year":"2020","unstructured":"Rusch CT, Bolsterli BK, Kottke R, Steinfeld R, Boltshauser E (2020) Pontocerebellar hypoplasia: a pattern recognition approach. Cerebellum 19:569\u2013582","journal-title":"Cerebellum"},{"key":"675_CR16","doi-asserted-by":"publisher","first-page":"636","DOI":"10.1016\/j.cell.2014.02.058","volume":"157","author":"E Karaca","year":"2014","unstructured":"Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM et al (2014) Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell 157:636\u2013650","journal-title":"Cell"},{"key":"675_CR17","doi-asserted-by":"publisher","first-page":"651","DOI":"10.1016\/j.cell.2014.03.049","volume":"157","author":"AE Schaffer","year":"2014","unstructured":"Schaffer AE, Eggens VR, Caglayan AO, Reuter MS, Scott E, Coufal NG, Silhavy JL, Xue Y, Kayserili H, Yasuno K et al (2014) CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell 157:651\u2013663","journal-title":"Cell"},{"key":"675_CR18","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1016\/j.ajhg.2016.05.023","volume":"99","author":"MW Breuss","year":"2016","unstructured":"Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M et al (2016) Autosomal-recessive mutations in the tRNA splicing endonuclease subunit TSEN15 cause pontocerebellar hypoplasia and progressive microcephaly. Am J Hum Genet 99:228\u2013235","journal-title":"Am J Hum Genet"},{"key":"675_CR19","doi-asserted-by":"publisher","first-page":"857","DOI":"10.1086\/521227","volume":"81","author":"S Edvardson","year":"2007","unstructured":"Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, Einbinder T, Saada A, Elpeleg O (2007) Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet 81:857\u2013862","journal-title":"Am J Hum Genet"},{"key":"675_CR20","doi-asserted-by":"publisher","first-page":"538","DOI":"10.1016\/j.ajhg.2010.09.007","volume":"87","author":"O Agamy","year":"2010","unstructured":"Agamy O, Ben Zeev B, Lev D, Marcus B, Fine D, Su D, Narkis G, Ofir R, Hoffmann C, Leshinsky-Silver E et al (2010) Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. Am J Hum Genet 87:538\u2013544","journal-title":"Am J Hum Genet"},{"key":"675_CR21","doi-asserted-by":"publisher","first-page":"704","DOI":"10.1038\/ng.2254","volume":"44","author":"J Wan","year":"2012","unstructured":"Wan J, Yourshaw M, Mamsa H, Rudnik-Schoneborn S, Menezes MP, Hong JE, Leong DW, Senderek J, Salman MS, Chitayat D et al (2012) Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet 44:704\u2013708","journal-title":"Nat Genet"},{"key":"675_CR22","doi-asserted-by":"publisher","first-page":"4287","DOI":"10.1038\/ncomms5287","volume":"5","author":"V Boczonadi","year":"2014","unstructured":"Boczonadi V, Muller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T et al (2014) EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nat Commun 5:4287","journal-title":"Nat Commun"},{"key":"675_CR23","doi-asserted-by":"publisher","first-page":"858","DOI":"10.1016\/j.ajhg.2018.03.011","volume":"102","author":"DT Burns","year":"2018","unstructured":"Burns DT, Donkervoort S, Muller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F et al (2018) Variants in EXOSC9 disrupt the RNA exosome and result in cerebellar atrophy with spinal motor neuronopathy. Am J Hum Genet 102:858\u2013873","journal-title":"Am J Hum Genet"},{"key":"675_CR24","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1007\/s00415-009-0094-0","volume":"256","author":"B Durmaz","year":"2009","unstructured":"Durmaz B, Wollnik B, Cogulu O, Li Y, Tekgul H, Hazan F, Ozkinay F (2009) Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings. J Neurol 256:416\u2013419","journal-title":"J Neurol"},{"key":"675_CR25","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1093\/brain\/awq287","volume":"134","author":"Y Namavar","year":"2011","unstructured":"Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM et al (2011) Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain 134:143\u2013156","journal-title":"Brain"}],"container-title":["neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-021-00675-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10048-021-00675-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-021-00675-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,21]],"date-time":"2022-01-21T07:08:36Z","timestamp":1642748916000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10048-021-00675-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,30]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["675"],"URL":"https:\/\/doi.org\/10.1007\/s10048-021-00675-0","relation":{},"ISSN":["1364-6745","1364-6753"],"issn-type":[{"value":"1364-6745","type":"print"},{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,30]]},"assertion":[{"value":"17 September 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 October 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 October 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All procedures were performed in accordance with the ethical standards of the responsible institutional committee on human experimentation and with the Helsinki Declaration of 1975, as revised in 2000, and the protocol was approved by the Ethics Committee of Shanghai Children\u2019s Medical Center (SCMCIRB- K2020060-1).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"The authors declare that they have no conflict of interest.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}