{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T02:09:46Z","timestamp":1782871786449,"version":"3.54.5"},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,11,23]],"date-time":"2016-11-23T00:00:00Z","timestamp":1479859200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["WT089698"],"award-info":[{"award-number":["WT089698"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004963","name":"Seventh Framework Programme","doi-asserted-by":"publisher","award":["281234"],"award-info":[{"award-number":["281234"]}],"id":[{"id":"10.13039\/501100004963","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005468","name":"Batten Disease Support and Research Association","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005468","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000320","name":"Alzheimer's Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000320","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The presence of deletions can complicate genetic diagnosis of autosomal recessive disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>The <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> of patients was analyzed in a diagnostic setting.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We present three unrelated patients each carrying deletions that encompass the 37\u00a0kb <jats:italic><jats:styled-content style=\"fixed-case\">CLN<\/jats:styled-content>8<\/jats:italic> gene and discuss their phenotype. Two of the cases were hemizygous for a mutant allele \u2013 their deletions unmasked a mutation in <jats:italic><jats:styled-content style=\"fixed-case\">CLN<\/jats:styled-content>8<\/jats:italic> on the other chromosome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Microarray analysis is recommended in any patient suspected of <jats:styled-content style=\"fixed-case\">NCL<\/jats:styled-content> who is apparently homozygous for a mutation that is not present in one of the parents or when the family has no known consanguinity.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.263","type":"journal-article","created":{"date-parts":[[2016,11,23]],"date-time":"2016-11-23T05:56:43Z","timestamp":1479880603000},"page":"85-91","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["<scp>CLN<\/scp>8 disease caused by large genomic deletions"],"prefix":"10.1002","volume":"5","author":[{"given":"Clare","family":"Beesley","sequence":"first","affiliation":[{"name":"Regional Genetics Laboratory Great Ormond Street Hospital London WC1N 3BH UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita J.","family":"Guerreiro","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience Institute of Neurology University College London Queen Square London WC1N 3BG UK"},{"name":"Department of Medical Sciences and Institute of Biomedicine \u2010 iBiMED University of Aveiro Aveiro 3810\u2010193 Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose T.","family":"Bras","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience Institute of Neurology University College London Queen Square London WC1N 3BG UK"},{"name":"Department of Medical Sciences and Institute of Biomedicine \u2010 iBiMED University of Aveiro Aveiro 3810\u2010193 Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth E.","family":"Williams","sequence":"additional","affiliation":[{"name":"Children's Neurosciences Evelina London Children's Hospital Westminster Bridge Road London SE1 7EH UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Lia","family":"Taratuto","sequence":"additional","affiliation":[{"name":"Institute for Neurological Research Monta\u00f1eses 2325 Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christin","family":"Eltze","sequence":"additional","affiliation":[{"name":"Neurology Department Great Ormond Street Hospital Great Ormond Street London WC1N 3JH UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara E.","family":"Mole","sequence":"additional","affiliation":[{"name":"MRC Laboratory for Molecular Cell Biology Genetics and Genomics Medicine Unit Department of Genetics, Evolution and Environment Institute of Child Health University College London Gower Street London WC1E 6BT UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,11,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780199590018.003.0012"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01777.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-005-0024-y"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.3.177"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21624"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/13868"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01285.x"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31825f0547"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0968-0004(02)02154-0"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2007.01.008"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.263","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.263","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T11:37:02Z","timestamp":1696333022000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.263"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11,23]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,1]]}},"alternative-id":["10.1002\/mgg3.263"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.263","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,11,23]]},"assertion":[{"value":"2016-09-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-11-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-11-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}