{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T15:58:37Z","timestamp":1772812717547,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,5,11]],"date-time":"2016-05-11T00:00:00Z","timestamp":1462924800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP08145"],"award-info":[{"award-number":["GGP08145"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:p>Congenital ataxias are nonprogressive neurological disorders characterized by neonatal hypotonia, developmental delay and ataxia, variably associated with intellectual disability and other neurological or extraneurological features. We performed trio\u2010based whole\u2010exome sequencing of 12 families with congenital cerebellar and\/or vermis atrophy in parallel with targeted next\u2010generation sequencing of known ataxia genes (<jats:italic><jats:styled-content style=\"fixed-case\">CACNA1A<\/jats:styled-content>, <jats:styled-content style=\"fixed-case\">ITPR1<\/jats:styled-content>, <jats:styled-content style=\"fixed-case\">KCNC3<\/jats:styled-content>, <jats:styled-content style=\"fixed-case\">ATP2B3<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">GRM1<\/jats:styled-content><\/jats:italic>) in 12 additional patients with a similar phenotype. Novel pathological mutations of <jats:italic><jats:styled-content style=\"fixed-case\">ITPR1<\/jats:styled-content><\/jats:italic> (inositol 1,4,5\u2010trisphosphate receptor, type 1) were found in seven patients from four families (4\/24, \u223c16.8%) all localized in the <jats:styled-content style=\"fixed-case\">IRBIT<\/jats:styled-content> (inositol triphosphate receptor binding protein) domain which plays an essential role in the regulation of neuronal plasticity and development. Our study expands the mutational spectrum of <jats:styled-content style=\"fixed-case\">ITPR1<\/jats:styled-content>\u2010related congenital ataxia and indicates that <jats:italic><jats:styled-content style=\"fixed-case\">ITPR1<\/jats:styled-content><\/jats:italic> gene screening should be implemented in this subgroup of ataxias.<\/jats:p>","DOI":"10.1111\/cge.12783","type":"journal-article","created":{"date-parts":[[2016,4,10]],"date-time":"2016-04-10T17:43:29Z","timestamp":1460310209000},"page":"86-91","source":"Crossref","is-referenced-by-count":29,"title":["Mutations in the <scp>IRBIT<\/scp> domain of <i><scp>ITPR1<\/scp><\/i> are a frequent cause of autosomal dominant nonprogressive congenital ataxia"],"prefix":"10.1111","volume":"91","author":[{"given":"S.","family":"Barresi","sequence":"first","affiliation":[{"name":"Department of Neurosciences, Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"},{"name":"Genetics and Rare Diseases Research Division Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Niceta","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Alfieri","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Child Neuropsychiatry Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Brankovic","sequence":"additional","affiliation":[{"name":"Clinic for Child Neurology and Psychiatry, Medical Faculty University of Belgrade  Belgrade Serbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Piccini","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Child Neuropsychiatry Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Bruselles","sequence":"additional","affiliation":[{"name":"Department of Hematology, Oncology and Molecular Medicine Istituto Superiore di Sanit\u00e0  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.R.","family":"Barone","sequence":"additional","affiliation":[{"name":"Centro ambulatoriale di Riabilitazione Fondazione Betania Onlus  Catanzaro Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Cusmai","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Neurology Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Tartaglia","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Bertini","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Zanni","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,5,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(98)00019-9"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-24"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-67"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv117"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7705-8"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000311277.71046.a0"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.053942"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0030108"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11427-013-4500-6"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm1155"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbior.2014.10.001"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj3020781"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0545-13.2013"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-013-0375-8"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40673-016-0040-8"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2015.07.023"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2006.05.017"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M807136200"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.07.019"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1207488109"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj20030110"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.31227"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-010-0182-9"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-51892-7.00037-1"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.087023"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000147299.80872.D1"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12783","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12783","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12783","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T00:08:31Z","timestamp":1696291711000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12783"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5,11]]},"references-count":27,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,1]]}},"alternative-id":["10.1111\/cge.12783"],"URL":"https:\/\/doi.org\/10.1111\/cge.12783","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,5,11]]}}}