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These disorders are typically associated with a thin or normal corpus callosum, while a thick corpus callosum has been rarely documented. This study reports the first known case of a homozygous insertion variant in the <jats:italic>TUBGCP2<\/jats:italic> gene associated with a thick corpus callosum. A 2\u2010year\u2010old male of Turkish origin presenting with microcephaly, developmental delay, distinctive facial features, and hypertonia. Brain MRI revealed cortical malformations consistent with the pachygyria\u2010polymicrogyria complex, as well as a thickened corpus callosum. Exome sequencing identified a homozygous NM_006659.4:c.2647dupC p.(Gln883Profs*62) variant in the <jats:italic>TUBGCP2<\/jats:italic> gene, which was confirmed by Sanger sequencing. This case expands both the genotypic and phenotypic spectrums of TUBGCP2\u2010related tubulinopathies by reporting a homozygous <jats:italic>TUBGCP2<\/jats:italic> variant in a patient with a thick corpus callosum, suggesting that <jats:italic>TUBGCP2<\/jats:italic> variants may influence corpus callosum morphology in a more variable manner than previously understood.<\/jats:p>","DOI":"10.1002\/ajmg.a.64134","type":"journal-article","created":{"date-parts":[[2025,5,31]],"date-time":"2025-05-31T02:39:21Z","timestamp":1748659161000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Thick Corpus Callosum: An Unusual Finding of <scp>TUBGCP2<\/scp>\u2010Related Tubulinopathy"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8714-4768","authenticated-orcid":false,"given":"Tuna Eren","family":"Esen","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Basaksehir Cam and Sakura City Hospital  Istanbul T\u00fcrkiye"},{"name":"Department of Medical Genetics Ankara Bilkent City Hospital  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didem","family":"Ardi\u00e7li","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Ankara Bilkent City Hospital  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avni Merter","family":"Ke\u00e7el\u0130","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology Ankara Bilkent City Hospital  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0953-6210","authenticated-orcid":false,"given":"B\u00fc\u015franur","family":"\u00c7avdarli","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Ankara Bilkent City Hospital  Ankara T\u00fcrkiye"},{"name":"Department of Medical Genetics Ankara Y\u0131ld\u0131r\u0131m Beyaz\u0131t University  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,5,30]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-014-2998-9"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31736"},{"issue":"1","key":"e_1_2_10_4_1","first-page":"190","article-title":"MR Imaging of the Corpus Callosum in Pediatric Patients With Neurofibromatosis Type 1","volume":"22","author":"Dubovsky E. 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