{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T05:47:19Z","timestamp":1770702439846,"version":"3.49.0"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2022,8,11]],"date-time":"2022-08-11T00:00:00Z","timestamp":1660176000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,8,11]],"date-time":"2022-08-11T00:00:00Z","timestamp":1660176000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81600995"],"award-info":[{"award-number":["81600995"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004735","name":"Natural Science Foundation of\u00a0Hunan Province","doi-asserted-by":"publisher","award":["2021JJ40984"],"award-info":[{"award-number":["2021JJ40984"]}],"id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Scientific Research Project of Hunan Provincial Health Commission","award":["C2019191"],"award-info":[{"award-number":["C2019191"]}]},{"name":"International Scientific Exchange Foundation of China","award":["Z2019LHNN001"],"award-info":[{"award-number":["Z2019LHNN001"]}]},{"name":"International Scientific Exchange Foundation of China","award":["Z2019LHNN002"],"award-info":[{"award-number":["Z2019LHNN002"]}]},{"name":"Hunan Science and Technology Innovation Plan","award":["2020SK53712"],"award-info":[{"award-number":["2020SK53712"]}]},{"name":"Xiangya Hospital Clinical Research Project","award":["2018101046"],"award-info":[{"award-number":["2018101046"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Genes Genom"],"published-print":{"date-parts":[[2023,3]]},"DOI":"10.1007\/s13258-022-01296-z","type":"journal-article","created":{"date-parts":[[2022,8,11]],"date-time":"2022-08-11T09:05:01Z","timestamp":1660208701000},"page":"359-365","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A novel pathogenic deletion in ISPD causes Walker-Warburg syndrome in a Chinese family"],"prefix":"10.1007","volume":"45","author":[{"given":"Yuting","family":"Shi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yimei","family":"Fu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhouteng","family":"Tao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenjing","family":"Yong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huirong","family":"Peng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenyang","family":"Jian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gang","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manhui","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanhua","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruojin","family":"Yao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1150-1754","authenticated-orcid":false,"given":"Dewei","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,8,11]]},"reference":[{"key":"1296_CR1","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1212\/WNL.0000000000003609","volume":"88","author":"BN Brun","year":"2017","unstructured":"Brun BN, Mockler SR, Laubscher KM, Stephan CM, Wallace AM, Collison JA, Zimmerman MB, Dobyns WB, Mathews KD (2017) Comparison of brain MRI findings with language and motor function in the dystroglycanopathies. Neurology 88:623\u2013629","journal-title":"Neurology"},{"key":"1296_CR2","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1016\/j.ajhg.2013.05.009","volume":"93","author":"KJ Carss","year":"2013","unstructured":"Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, Van Scherpenzeel M, Moore SA (2013) Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of \u03b1-dystroglycan. Am J Hum Genet 93:29\u201341","journal-title":"Am J Hum Genet"},{"key":"1296_CR3","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1016\/j.ejmg.2013.09.014","volume":"56","author":"JC Czeschik","year":"2013","unstructured":"Czeschik JC, Hehr U, Hartmann B, Ludecke HJ, Rosenbaum T, Schweiger B, Wieczorek D (2013) 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. Eur J Med Genet 56:689\u2013694","journal-title":"Eur J Med Genet"},{"key":"1296_CR4","doi-asserted-by":"publisher","first-page":"11534","DOI":"10.1038\/ncomms11534","volume":"7","author":"I Gerin","year":"2016","unstructured":"Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsee J, Halbout M, Graff J, Vertommen D, Muccioli GG, Seta N et al (2016) ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto alpha-dystroglycan. Nat Commun 7:11534","journal-title":"Nat Commun"},{"key":"1296_CR5","doi-asserted-by":"publisher","first-page":"2725","DOI":"10.1093\/brain\/awm212","volume":"130","author":"C Godfrey","year":"2007","unstructured":"Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L et al (2007) Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 130:2725\u20132735","journal-title":"Brain"},{"key":"1296_CR6","doi-asserted-by":"publisher","first-page":"1651","DOI":"10.1093\/hmg\/2.10.1651","volume":"2","author":"O Ibraghimov-Beskrovnaya","year":"1993","unstructured":"Ibraghimov-Beskrovnaya O, Milatovich A, Ozcelik T, Yang B, Koepnick K, Francke U, Campbell KP (1993) Human dystroglycan: skeletal muscle cDNA, genomic structure, origin of tissue specific isoforms and chromosomal localization. Hum Mol Genet 2:1651\u20131657","journal-title":"Hum Mol Genet"},{"key":"1296_CR7","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1016\/S0960-8966(03)00040-3","volume":"13","author":"V Jayasinha","year":"2003","unstructured":"Jayasinha V, Nguyen HH, Xia B, Kammesheidt A, Hoyte K, Martin PT (2003) Inhibition of dystroglycan cleavage causes muscular dystrophy in transgenic mice. Neuromuscul Disord 13:365\u2013375","journal-title":"Neuromuscul Disord"},{"key":"1296_CR8","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1093\/bib\/bbu027","volume":"16","author":"L Kadalayil","year":"2015","unstructured":"Kadalayil L, Rafiq S, Rose-Zerilli MJ, Pengelly RJ, Parker H, Oscier D, Strefford JC, Tapper WJ, Gibson J, Ennis S et al (2015) Exome sequence read depth methods for identifying copy number changes. Brief Bioinform 16:380\u2013392","journal-title":"Brief Bioinform"},{"key":"1296_CR9","doi-asserted-by":"publisher","first-page":"788","DOI":"10.1016\/S0140-6736(15)60694-8","volume":"387","author":"KT Kahle","year":"2016","unstructured":"Kahle KT, Kulkarni AV, Limbrick DD, Warf BC (2016) Hydrocephalus in children. Lancet 387:788\u2013799","journal-title":"Lancet"},{"key":"1296_CR10","doi-asserted-by":"publisher","first-page":"845","DOI":"10.1038\/nprot.2015.053","volume":"10","author":"LA Kelley","year":"2015","unstructured":"Kelley LA, Mezulis S, Yates CM, Wass MN, Sternberg MJ (2015) The Phyre2 web portal for protein modeling, prediction and analysis. Nat Protoc 10:845\u2013858","journal-title":"Nat Protoc"},{"key":"1296_CR11","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","volume":"536","author":"M Lek","year":"2016","unstructured":"Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O\u2019Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB et al (2016) Analysis of protein-coding genetic variation in 60,706 humans. Nature 536:285\u2013291","journal-title":"Nature"},{"key":"1296_CR12","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","volume":"26","author":"H Li","year":"2010","unstructured":"Li H, Durbin R (2010) Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 26:589\u2013595","journal-title":"Bioinformatics"},{"key":"1296_CR13","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M et al (2010) The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20:1297\u20131303","journal-title":"Genome Res"},{"key":"1296_CR14","doi-asserted-by":"crossref","unstructured":"Nickolls AR, Bonnemann CG (2018) The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy. Dis Model Mech 11:dmm035931","DOI":"10.1242\/dmm.035931"},{"key":"1296_CR15","doi-asserted-by":"publisher","first-page":"1643","DOI":"10.1016\/j.chembiol.2015.10.014","volume":"22","author":"M Riemersma","year":"2015","unstructured":"Riemersma M, Froese DS, van Tol W, Engelke UF, Kopec J, van Scherpenzeel M, Ashikov A, Krojer T, von Delft F, Tessari M et al (2015) Human ISPD is a cytidyltransferase required for dystroglycan O-mannosylation. Chem Biol 22:1643\u20131652","journal-title":"Chem Biol"},{"key":"1296_CR16","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1038\/ng.2253","volume":"44","author":"T Roscioli","year":"2012","unstructured":"Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE et al (2012) Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. Nat Genet 44:581\u2013585","journal-title":"Nat Genet"},{"key":"1296_CR17","doi-asserted-by":"publisher","first-page":"10567","DOI":"10.1523\/JNEUROSCI.2457-08.2008","volume":"28","author":"JS Satz","year":"2008","unstructured":"Satz JS, Barresi R, Durbeej M, Willer T, Turner A, Moore SA, Campbell KP (2008) Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast. J Neurosci 28:10567\u201310575","journal-title":"J Neurosci"},{"key":"1296_CR18","doi-asserted-by":"publisher","first-page":"789","DOI":"10.1111\/cge.13695","volume":"97","author":"D Song","year":"2020","unstructured":"Song D, Fu X, Ge L, Chang X, Wei C, Liu J, Yang H, Qu S, Bao X, Toda T et al (2020) A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients. Clin Genet 97:789\u2013790","journal-title":"Clin Genet"},{"key":"1296_CR19","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1004873","volume":"12","author":"E Talevich","year":"2016","unstructured":"Talevich E, Shain AH, Botton T, Bastian BC (2016) CNVkit: genome-wide copy number detection and visualization from targeted DNA sequencing. PLoS Comput Biol 12:e1004873","journal-title":"PLoS Comput Biol"},{"key":"1296_CR20","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1186\/1750-1172-1-29","volume":"1","author":"J Vajsar","year":"2006","unstructured":"Vajsar J, Schachter H (2006) Walker-Warburg syndrome. Orphanet J Rare Dis 1:29","journal-title":"Orphanet J Rare Dis"},{"key":"1296_CR21","doi-asserted-by":"publisher","first-page":"1135","DOI":"10.1016\/j.ajhg.2012.10.009","volume":"91","author":"S Vuillaumier-Barrot","year":"2012","unstructured":"Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerriere A, Fallet-Bianco C, Loget P, Odent S et al (2012) Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet 91:1135\u20131143","journal-title":"Am J Hum Genet"},{"key":"1296_CR22","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/ng.2252","volume":"44","author":"T Willer","year":"2012","unstructured":"Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T et al (2012) ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet 44:575\u2013580","journal-title":"Nat Genet"}],"container-title":["Genes &amp; Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13258-022-01296-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13258-022-01296-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13258-022-01296-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,22]],"date-time":"2023-02-22T17:18:56Z","timestamp":1677086336000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13258-022-01296-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,11]]},"references-count":22,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["1296"],"URL":"https:\/\/doi.org\/10.1007\/s13258-022-01296-z","relation":{},"ISSN":["1976-9571","2092-9293"],"issn-type":[{"value":"1976-9571","type":"print"},{"value":"2092-9293","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,11]]},"assertion":[{"value":"7 March 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 July 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 August 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Yuting Shi, Yimei Fu, Zhouteng Tao, Wenjing Yong, Huirong Peng, Wenyang Jian, Gang Chen, Manhui Guo, Yanhua Zhao, Ruojin Yao and Dewei Guo declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Signed informed consent has been obtained from the parents of the fetus (III:3) in accordance with the Declaration of Helsinki. This study was approved by the Ethics Committee of the Xiangya Hospital of Central South University in China (No. 202103542).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics statement"}},{"value":"Not applicable.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Code availability"}}]}}