{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T19:24:54Z","timestamp":1790105094060,"version":"4.0.1"},"reference-count":52,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,3,13]],"date-time":"2023-03-13T00:00:00Z","timestamp":1678665600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100012070","name":"Anatomical Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012070","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Anatomy"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>CHARGE (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth, Genital anomalies and Ear abnormalities) syndrome is a disorder caused by mutations in the gene encoding CHD7, an ATP dependent chromatin remodelling factor, and is characterised by a diverse array of congenital anomalies. These include a range of neuroanatomical comorbidities which likely underlie the varied neurodevelopmental disorders associated with CHARGE syndrome, which include intellectual disability, motor coordination deficits, executive dysfunction, and autism spectrum disorder. Cranial imaging studies are challenging in CHARGE syndrome patients, but high\u2010throughput magnetic resonance imaging (MRI) techniques in mouse models allow for the unbiased identification of neuroanatomical defects. Here, we present a comprehensive neuroanatomical survey of a <jats:italic>Chd7<\/jats:italic> haploinsufficient mouse model of CHARGE syndrome. Our study uncovered widespread brain hypoplasia and reductions in white matter volume across the brain. The severity of hypoplasia appeared more pronounced in posterior areas of the neocortex compared to anterior regions. We also perform the first assessment of white matter tract integrity in this model through diffusion tensor imaging (DTI) to assess the potential functional consequences of widespread reductions in myelin, which suggested the presence of white matter integrity defects. To determine if white matter alterations correspond to cellular changes, we quantified oligodendrocyte lineage cells in the postnatal corpus callosum, uncovering reduced numbers of mature oligodendrocytes. Together, these results present a range of promising avenues of focus for future cranial imaging studies in CHARGE syndrome patients.<\/jats:p>","DOI":"10.1111\/joa.13856","type":"journal-article","created":{"date-parts":[[2023,3,14]],"date-time":"2023-03-14T02:55:47Z","timestamp":1678762547000},"page":"51-65","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Pervasive cortical and white matter anomalies in a mouse model for <scp>CHARGE<\/scp> syndrome"],"prefix":"10.1111","volume":"243","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7418-2447","authenticated-orcid":false,"given":"Alex P. A.","family":"Donovan","sequence":"first","affiliation":[{"name":"Centre for Craniofacial and Regenerative Biology King's College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6620-0879","authenticated-orcid":false,"given":"Lauren","family":"Rosko","sequence":"additional","affiliation":[{"name":"Department of Biology Georgetown University  Washington DC USA"},{"name":"Interdisciplinary Program in Neuroscience Georgetown University  Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Ellegood","sequence":"additional","affiliation":[{"name":"Mouse Imaging Centre The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yushi","family":"Redhead","sequence":"additional","affiliation":[{"name":"Centre for Craniofacial and Regenerative Biology King's College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6102-2620","authenticated-orcid":false,"given":"Jeremy B. A.","family":"Green","sequence":"additional","affiliation":[{"name":"Centre for Craniofacial and Regenerative Biology King's College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason P.","family":"Lerch","sequence":"additional","affiliation":[{"name":"Mouse Imaging Centre The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Department of Medical Biophysics The University of Toronto  Toronto Ontario Canada"},{"name":"Department of Neurosciences and Mental Health The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Department of Preclinical Imaging, Wellcome Centre for Integrative Neuroimaging University of Oxford  Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey K.","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Biology Georgetown University  Washington DC USA"},{"name":"Interdisciplinary Program in Neuroscience Georgetown University  Washington DC USA"},{"name":"Centre for Cell Reprogramming Georgetown University  Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9834-7528","authenticated-orcid":false,"given":"M. Albert","family":"Basson","sequence":"additional","affiliation":[{"name":"Centre for Craniofacial and Regenerative Biology King's College London  London UK"},{"name":"MRC Centre for Neurodevelopmental Disorders King's College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,3,13]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.3109\/00016489.2013.814155"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30542"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992289803700302"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20101\u201034"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnsys.2013.00092"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1941\u201016.2016"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881\u2010019\u20100813\u2010z"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31593"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnana.2017.00086"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2008.03.037"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13229\u2010018\u20100210\u2010z"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1730169100"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms14758"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.15\u201018069"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012\u20103467"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30545"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1080\/09297040600850944"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4258"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A5297"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/jpc.12497"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335\u2010006\u20100107\u20106"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13229\u2010020\u201000409\u20103"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22086"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1017\/s0012162206000090"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1522\u20102594(199909)42:3<515::AID\u2010MRM14>3.0.CO;2\u2010Q"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036061"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.4103\/1817\u20101745.139309"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2008.02.019"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/978\u20101\u201061737\u2010992\u20105_17"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4501"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370303"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1802620115"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30558"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1152\/physiolgenomics.00217.2005"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI37561"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401\u2010013\u20101104\u2010y"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.74.7.421"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036160"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nicl.2019.101866"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a020479"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30544"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.135"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/aur.1344"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.188631"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2013.04.008"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30559"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10882\u2010007\u20109064\u20106"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31595"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI83408"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.01305"},{"key":"e_1_2_9_53_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010019\u201055604\u2010x"}],"container-title":["Journal of Anatomy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/joa.13856","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/joa.13856","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/joa.13856","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,31]],"date-time":"2023-12-31T12:15:37Z","timestamp":1704024937000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/joa.13856"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,13]]},"references-count":52,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["10.1111\/joa.13856"],"URL":"https:\/\/doi.org\/10.1111\/joa.13856","archive":["Portico"],"relation":{},"ISSN":["0021-8782","1469-7580"],"issn-type":[{"value":"0021-8782","type":"print"},{"value":"1469-7580","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,13]]},"assertion":[{"value":"2022-08-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-02-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}