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However, the genetic origins of the disorder remain unidentified in nearly one-fifth of people with lissencephaly. Using whole-exome sequencing, we identified a de novo BAIAP2 variant, p.Arg29Trp, in an individual with lissencephaly with a posterior more severe than anterior (P&amp;gt;A) gradient, implicating BAIAP2 as a potential lissencephaly gene. Spatial transcriptome analysis in the developing mouse cortex revealed that Baiap2 is expressed in the cortical plate and intermediate zone in an anterior low to posterior high gradient. We next used in utero electroporation to explore the effects of the Baiap2 variant in the developing mouse cortex. We found that Baiap2 knockdown caused abnormalities in neuronal migration, morphogenesis and differentiation. Expression of the p.Arg29Trp variant failed to rescue the migration defect, suggesting a loss-of-function effect. Mechanistically, the variant interfered with the ability of BAIAP2 to localize to the cell membrane. These results suggest that the functions of BAIAP2 in the cytoskeleton, cell morphogenesis and migration are important for cortical development and for the pathogenesis of lissencephaly in humans.<\/jats:p>","DOI":"10.1242\/dev.201912","type":"journal-article","created":{"date-parts":[[2023,12,27]],"date-time":"2023-12-27T10:23:42Z","timestamp":1703672622000},"source":"Crossref","is-referenced-by-count":10,"title":["A lissencephaly-associated <i>BAIAP2<\/i> variant causes defects in neuronal migration during brain development"],"prefix":"10.1242","volume":"151","author":[{"given":"Meng-Han","family":"Tsai","sequence":"first","affiliation":[{"name":"Kaohsiung Chang Gung Memorial Hospital 1 Department of Neurology & Department of Medical Research , , Kaohsiung 833 , Taiwan"},{"name":"School of Medicine, Chang Gung University 2 , Taoyuan 333 , Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wan-Cian","family":"Lin","sequence":"additional","affiliation":[{"name":"Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University 3 , Taipei 112 , Taiwan"},{"name":"College of Medicine, National Yang Ming Chiao Tung University 4 Faculty of Medicine , , Taipei 112 , Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shih-Ying","family":"Chen","sequence":"additional","affiliation":[{"name":"Kaohsiung Chang Gung Memorial Hospital 1 Department of Neurology & Department of Medical Research , , Kaohsiung 833 , Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meng-Ying","family":"Hsieh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Chang Gung Memorial Hospital 5 Division of Pediatric Neurology , , Taipei 105 , 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Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shih-Shun","family":"Hung","sequence":"additional","affiliation":[{"name":"Institute of Anatomy and Cell Biology, National Yang Ming Chiao Tung University 7 , Taipei 112 , Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chi-Hsin","family":"Hsu","sequence":"additional","affiliation":[{"name":"Genomics Center for Clinical and Biotechnological Applications, Cancer Progression Research Center, National Yang Ming Chiao Tung University 8 , Taipei 112 , Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei-Shan","family":"Hou","sequence":"additional","affiliation":[{"name":"Institute of Anatomy and Cell Biology, National Yang Ming Chiao Tung University 7 , Taipei 112 , Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chien-Yi","family":"Tung","sequence":"additional","affiliation":[{"name":"Genomics Center for Clinical and Biotechnological Applications, 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