{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T08:35:34Z","timestamp":1777710934735,"version":"3.51.4"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,2,17]],"date-time":"2019-02-17T00:00:00Z","timestamp":1550361600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000092","name":"Ontario Genomics Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000092","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008762","name":"Genome Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008762","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:p>Autosomal dominant Dandy\u2010Walker malformation and occipital cephalocele (ADDWOC) is a rare, congenital, and incompletely penetrant malformation that is considered to be part of the Dandy\u2010Walker spectrum of disorders. Affected individuals often present with an occipital cephalocele with a bony skull defect, but typically have normal neurological development. Here, we report on a three\u2010generation family in which individuals have variable phenotypes that are consistent with the ADDWOC spectrum: arachnoid cysts in the proband and his maternal grandfather, an occipital cephalocele in the proband and his brother, and a small bony defect in the proband's mother. Whole exome sequencing identified a rare heterozygous variant in <jats:italic>NID1<\/jats:italic> (NM_002508.2:c.1162C&gt;T, (p.Gln388Ter)) in the proband, his brother, and his mother. Sanger sequencing confirmed the presence of this variant in the maternal grandfather. The identical c.1162C&gt;T variant was previously identified in variably affected members of a three\u2010generation family with ADDWOC. This case report provides further evidence that variants in <jats:italic>NID1<\/jats:italic> may be clinically relevant for the development of a phenotype that is consistent with ADDWOC, and extends the phenotype of <jats:italic>NID1<\/jats:italic>\u2010associated ADDWOC to include arachnoid cysts. Given that the Dandy\u2010Walker malformation itself is not a pre\u2010requisite to this spectrum of phenotypes, we also suggest a novel term for the <jats:italic>NID1<\/jats:italic>\u2010associated disorder in order to give emphasis to this phenotypic variability: \u201cAutosomal Dominant Posterior Fossa Anomalies with Occipital Cephaloceles.\u201d<\/jats:p>","DOI":"10.1002\/ajmg.a.61095","type":"journal-article","created":{"date-parts":[[2019,2,18]],"date-time":"2019-02-18T00:04:49Z","timestamp":1550448289000},"page":"837-841","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes"],"prefix":"10.1002","volume":"179","author":[{"given":"Vanda","family":"McNiven","sequence":"first","affiliation":[{"name":"Division of Clinical and Metabolic Genetics The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoko A.","family":"Ito","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa  Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taila","family":"Hartley","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa  Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristin","family":"Kernohan","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa  Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elka","family":"Miller","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging Children's Hospital of Eastern Ontario, University of Ottawa  Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Care4Rare Canada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine M.","family":"Armour","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa  Ottawa Ontario Canada"},{"name":"Regional Genetics Unit Children's Hospital of Eastern Ontario  Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,2,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.422"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.25.15.6846-6856.2005"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp247"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000125255.90915.5C"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.05.003"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.054114"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M607886200"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31255"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22351"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.LAB.0000042240.52093.0F"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2011.30.12.1747"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/89683"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0467-y"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/20.19.5342"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000121136"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1993.tb05836.x"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.20.18.7007-7012.2000"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1994.tb06683.x"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0014-2956.2001.02437.x"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1006\/excr.2002.5611"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2006.03.003"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61095","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61095","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T07:39:30Z","timestamp":1694331570000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61095"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2,17]]},"references-count":23,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,5]]}},"alternative-id":["10.1002\/ajmg.a.61095"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61095","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,2,17]]},"assertion":[{"value":"2019-02-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}