{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T06:22:22Z","timestamp":1777357342729,"version":"3.51.4"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,4,5]],"date-time":"2025-04-05T00:00:00Z","timestamp":1743811200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology, Ministry of Science and Technology, India","doi-asserted-by":"publisher","award":["BT\/PR45460\/MED\/12\/952\/2022"],"award-info":[{"award-number":["BT\/PR45460\/MED\/12\/952\/2022"]}],"id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Lissencephaly is a genetically heterogeneous condition caused by aberrant neuronal migration. Cerebellar hypoplasia has been commonly associated in some subtypes of lissencephaly, notably the tubulinopathies. CDK5 is a microtubule\u2010associated protein, and its defective function has been implicated in various neurodevelopmental and neurodegenerative disorders. Biallelic loss\u2010of\u2010function variant in\n                    <jats:italic>CDK5<\/jats:italic>\n                    has been reported to cause lissencephaly type 7 in a single family to date. We describe an infant with diffuse agyria, cerebellar hypoplasia, and agenesis of the corpus callosum harboring a homozygous novel missense variant c.149G&gt;A in\n                    <jats:italic>CDK5<\/jats:italic>\n                    . She had refractory seizures, pyramidal signs, microcephaly, and growth failure. She did not achieve any developmental milestones and succumbed at 4\u2009months of age. The disease course and severity were similar to those observed in the patients in the first report, who had a splicing defect leading to loss\u2010of\u2010function. In silico functional analysis showed that the variant c.149G&gt;A (p.Arg50Gln) caused instability of the CDK5 protein structure, potentially causing functional disruption. Functional analysis of the p.Arg50Gln variant, using a yeast complementation assay, showed a deleterious impact of the variant. In conclusion, this is the second family with\n                    <jats:italic>CDK5<\/jats:italic>\n                    \u2010related lissencephaly type 7.\n                  <\/jats:p>","DOI":"10.1111\/cge.14748","type":"journal-article","created":{"date-parts":[[2025,4,5]],"date-time":"2025-04-05T05:14:38Z","timestamp":1743830078000},"page":"347-351","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Novel Variant c.\n                    <scp>149G<\/scp>\n                    &gt;A in\n                    <scp>CDK5<\/scp>\n                    Gene Causing Lissencephaly Type 7"],"prefix":"10.1111","volume":"108","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0756-9868","authenticated-orcid":false,"given":"Amita","family":"Moirangthem","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences  Lucknow UP India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anjana","family":"Kar","sequence":"additional","affiliation":[{"name":"Diagnostics Division Centre for DNA Fingerprinting and Diagnostics  Hyderabad Telangana India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahima","family":"Sagar","sequence":"additional","affiliation":[{"name":"Lab of Fungal Pathogenesis Centre for DNA Fingerprinting and Diagnostics  Hyderabad Telangana India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niladri","family":"Das","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences  Lucknow UP India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajesh K.","family":"Maurya","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences  Lucknow UP India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ankit","family":"Dhakad","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences  Lucknow UP India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rupinder","family":"Kaur","sequence":"additional","affiliation":[{"name":"Lab of Fungal Pathogenesis Centre for DNA Fingerprinting and Diagnostics  Hyderabad Telangana India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5929-745X","authenticated-orcid":false,"given":"Ashwin","family":"Dalal","sequence":"additional","affiliation":[{"name":"Diagnostics Division Centre for DNA Fingerprinting and Diagnostics  Hyderabad Telangana India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,5]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.EJPN.2021.09.013"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/AJMG.A.38245"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/S00439\u2010014\u20101522\u20105"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/PNAS.96.25.14445"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/GENETICS\/143.1.57"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960\u20109822(07)00561\u20101"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.EJMG.2018.07.012"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/FNCEL.2022.951202"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/PNAS.93.20.11173"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.CELREP.2017.08.024"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14748","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,4]],"date-time":"2025-08-04T03:32:43Z","timestamp":1754278363000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14748"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,5]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1111\/cge.14748"],"URL":"https:\/\/doi.org\/10.1111\/cge.14748","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14748\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14748\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14748\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14748\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14748\/v1\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,5]]},"assertion":[{"value":"2025-03-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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