{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:55:45Z","timestamp":1753890945921,"version":"3.41.2"},"reference-count":14,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,10,8]],"date-time":"2021-10-08T00:00:00Z","timestamp":1633651200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002855","name":"Ministry of Science and Technology of the People\u2019s Republic of China","doi-asserted-by":"publisher","award":["2016YFC0904400"],"award-info":[{"award-number":["2016YFC0904400"]}],"id":[{"id":"10.13039\/501100002855","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p><jats:bold>Background:<\/jats:bold> Contactin 2, encoded by <jats:italic>CNTN2<\/jats:italic> on chromosome 1q32.1, is a neural-specific glycoprotein and plays important roles in neurodevelopment. A deleterious homozygous variant in the <jats:italic>CNTN2<\/jats:italic> gene was previously reported to cause autosomal recessive cortical myoclonic tremor and epilepsy. Since then, there has been no further report confirming the association of <jats:italic>CNTN2<\/jats:italic> and epilepsy. Here, we reported one new case, who presented with epilepsy, carrying a novel homozygous frameshift variant in <jats:italic>CNTN2<\/jats:italic>. The clinical and genetic features of the patient were reviewed.<\/jats:p><jats:p><jats:bold>Case presentation:<\/jats:bold> The male patient presented with preschool age-of-onset neurodevelopmental impairment and focal seizures of temporal origin, and responded to valproate. A trio-whole exome sequencing revealed a novel homozygous frameshift variant in <jats:italic>CNTN2<\/jats:italic> (c.2873_c.2874delCT, p.Thr958Thrfs). The patient\u2019s mother was a heterozygous carrier while his father was wild-type; they were both unaffected and non-consanguineous. Further study revealed that maternal uniparental disomy (1q32.1) unmasked the heterozygous variant of <jats:italic>CNTN2<\/jats:italic> in the proband.<\/jats:p><jats:p><jats:bold>Conclusions:<\/jats:bold> This case enhanced the gene\u2013disease relationship between <jats:italic>CNTN2<\/jats:italic> and epilepsy, which will help to further understand this emerging disorder.<\/jats:p>","DOI":"10.3389\/fgene.2021.743833","type":"journal-article","created":{"date-parts":[[2021,10,8]],"date-time":"2021-10-08T07:37:44Z","timestamp":1633678664000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":7,"title":["Case Report: A Case of Epileptic Disorder Associated With a Novel CNTN2 Frameshift Variant in Homozygosity due to Maternal Uniparental Disomy"],"prefix":"10.3389","volume":"12","author":[{"given":"Wenjie","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fei","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yiping","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhixian","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiong","family":"Qin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2021,10,8]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"564","DOI":"10.1002\/pd.5837","article-title":"Uniparental Disomy: Origin, Frequency, and Clinical Significance","volume":"41","author":"Benn","year":"2021","journal-title":"Prenatal Diagn."},{"key":"B2","doi-asserted-by":"publisher","first-page":"1263","DOI":"10.1093\/hmg\/ddq003","article-title":"Mechanisms of Mosaicism, Chimerism and Uniparental Disomy Identified by Single Nucleotide Polymorphism Array Analysis","volume":"19","author":"Conlin","year":"2010","journal-title":"Hum. 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Genet."},{"key":"B11","doi-asserted-by":"publisher","first-page":"1155","DOI":"10.1093\/brain\/awt068","article-title":"Autosomal Recessive Cortical Myoclonic Tremor and Epilepsy: Association with a Mutation in the Potassium Channel Associated Gene CNTN2","volume":"136","author":"Stogmann","year":"2013","journal-title":"Brain"},{"key":"B12","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1684\/epd.2016.0860","article-title":"Autosomal Dominant Cortical Tremor, Myoclonus and Epilepsy","volume":"18","author":"Striano","year":"2016","journal-title":"Epileptic Disord."},{"key":"B13","doi-asserted-by":"publisher","first-page":"e253","DOI":"10.1093\/brain\/awt140","article-title":"Autosomal Recessive Epilepsy Associated with Contactin 2 Mutation Is Different from Familial Cortical Tremor, Myoclonus and Epilepsy","volume":"136","author":"Striano","year":"2013","journal-title":"Brain"},{"key":"B14","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1002\/ajmg.c.30270","article-title":"Uniparental Disomy and Human Disease: An Overview","author":"Yamazawa","year":"2010","journal-title":"Am. J. Med. Genet."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2021.743833\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,8]],"date-time":"2021-10-08T07:37:48Z","timestamp":1633678668000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2021.743833\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,8]]},"references-count":14,"alternative-id":["10.3389\/fgene.2021.743833"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2021.743833","relation":{},"ISSN":["1664-8021"],"issn-type":[{"type":"electronic","value":"1664-8021"}],"subject":[],"published":{"date-parts":[[2021,10,8]]},"article-number":"743833"}}