{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T21:15:27Z","timestamp":1767906927968,"version":"3.49.0"},"reference-count":12,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T00:00:00Z","timestamp":1715040000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a case study of a patient exhibiting acquired microcephaly along with global developmental delay and drug\u2010resistant epilepsy. Brain magnetic resonance imaging revealed distinctive features, including a Z\u2010shaped morphology of the brainstem, volumetric reduction of white matter, diffuse thinning of the corpus callosum, and partial fusion of the cerebellar hemispheres at their most cranial portion. Whole\u2010exome sequencing uncovered a pathogenic variant in the <jats:italic>ARF3<\/jats:italic> gene c.200A&gt;T, p.(Asp67Val). The neurodevelopmental disorder associated with the <jats:italic>ARF3<\/jats:italic> gene is exceptionally rare, with only two previously documented cases in the literature. This disorder is characterized by global developmental delay and brain malformations, particularly affecting the white matter, cerebellum, and brainstem. It can also manifest as acquired microcephaly and epilepsy. These phenotypic characteristics align with Golgipathies, underscoring the significance of considering this group of conditions in relevant clinical contexts. In cases where a Z\u2010shaped morphology of the brainstem is observed, <jats:italic>ARF3<\/jats:italic>\u2010associated disorder should be included in the list of differential diagnoses.<\/jats:p>","DOI":"10.1002\/ajmg.a.63658","type":"journal-article","created":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T12:48:37Z","timestamp":1715086117000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Neurodevelopmental disorder associated with gene <i>ARF3<\/i>: A case report"],"prefix":"10.1002","volume":"194","author":[{"given":"Suelen","family":"dos Santos Henrique","sequence":"first","affiliation":[{"name":"Pediatric Neurology Department Hospital Pequeno Pr\u00edncipe  Curitiba Paran\u00e1 Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariana Jord\u00e3o","family":"Fran\u00e7a","sequence":"additional","affiliation":[{"name":"Medicine Faculty Positivo University  Curitiba Paran\u00e1 Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui Carlos","family":"Silva Junior","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department Hospital Pequeno Pr\u00edncipe  Curitiba Paran\u00e1 Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mara L\u00facia Schmitz Ferreira","family":"Santos","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department Hospital Pequeno Pr\u00edncipe  Curitiba Paran\u00e1 Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9005-6726","authenticated-orcid":false,"given":"Daniel Almeida","family":"do Valle","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department Hospital Pequeno Pr\u00edncipe  Curitiba Paran\u00e1 Brazil"},{"name":"Medicine Faculty Positivo University  Curitiba Paran\u00e1 Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,5,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm3117"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-022-34354-x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2022.02.012"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.5114\/pjr.2021.105014"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0039-1692970"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.121"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pneurobio.2017.03.007"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00294-017-0798-0"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2023.01.004"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000497035"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddab224"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2022.10.009"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63658","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,9]],"date-time":"2024-10-09T15:25:52Z","timestamp":1728487552000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63658"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,7]]},"references-count":12,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["10.1002\/ajmg.a.63658"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63658","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,7]]},"assertion":[{"value":"2024-02-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-07","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63658"}}