{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T15:39:38Z","timestamp":1780760378028,"version":"3.54.1"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,10,2]],"date-time":"2019-10-02T00:00:00Z","timestamp":1569974400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>This study reports the genetic features of four Caucasian males from the Saguenay\u2012Lac\u2010St\u2010Jean region affected by partial agenesis of the corpus callosum (ACC) with hypotonia, epilepsy, developmental delay, microcephaly, hypoplasia, and autistic behavior.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed whole exome sequencing (WES) to identify new genes involved in this pathological phenotype. The regions of interest were subsequently sequenced for family members.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Single\u2010nucleotide variations (SNVs) and insertions or deletions were detected in genes potentially implicated in brain defects observed in these patients. One patient did not have mutations in genes related to ACC, but carried a de novo pathogenic mutation in Mucolipin\u20101 (<jats:italic>MCOLN1<\/jats:italic>) and was diagnosed with mucolipidosis type IV. Among the other probands, missense SNVs were observed in <jats:italic>DCLK2<\/jats:italic> (Doublecortin Like Kinase 2), <jats:italic>HERC2<\/jats:italic> (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2), and <jats:italic>KCNH3<\/jats:italic> (Potassium channel, voltage\u2010gated, subfamily H, member 3). One patient also carried a non\u2010frameshift insertion in <jats:italic>CACNA1A<\/jats:italic> (Cav2.1(P\/Q\u2010type) calcium channels).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Although no common genetic defect was observed in this study, we provide evidence for new avenues of investigation for ACC, such as molecular pathways involving <jats:italic>HERC2<\/jats:italic>, <jats:italic>CACNA1A<\/jats:italic>, <jats:italic>KCNH3,<\/jats:italic> and more importantly <jats:italic>DCLK2<\/jats:italic>. We also allowed to diagnose an individual with mucolipidosis type IV.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.992","type":"journal-article","created":{"date-parts":[[2019,10,3]],"date-time":"2019-10-03T03:16:30Z","timestamp":1570072590000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5234-2326","authenticated-orcid":false,"given":"Jolyane","family":"Meloche","sequence":"first","affiliation":[{"name":"Centre intersectoriel en sant\u00e9 durable Universit\u00e9 du Qu\u00e9bec \u00e0 Chicoutimi Saguenay QC Canada"},{"name":"D\u00e9partement des Sciences Fondamentales Universit\u00e9 du Qu\u00e9bec \u00e0 Chicoutimi Saguenay QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa","family":"Brunet","sequence":"additional","affiliation":[{"name":"D\u00e9partement des Sciences Fondamentales Universit\u00e9 du Qu\u00e9bec \u00e0 Chicoutimi Saguenay QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre\u2010Alexandre","family":"Gagnon","sequence":"additional","affiliation":[{"name":"Centre intersectoriel en sant\u00e9 durable Universit\u00e9 du Qu\u00e9bec \u00e0 Chicoutimi Saguenay QC Canada"},{"name":"D\u00e9partement des Sciences Fondamentales Universit\u00e9 du Qu\u00e9bec \u00e0 Chicoutimi Saguenay QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010\u00c8ve","family":"Lavoie","sequence":"additional","affiliation":[{"name":"Centre intersectoriel en sant\u00e9 durable Universit\u00e9 du Qu\u00e9bec \u00e0 Chicoutimi Saguenay QC Canada"},{"name":"D\u00e9partement des Sciences Fondamentales Universit\u00e9 du Qu\u00e9bec \u00e0 Chicoutimi Saguenay QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Beno\u00eet","family":"Bouchard","sequence":"additional","affiliation":[{"name":"Centre de Sant\u00e9 et de Services Sociaux de Chicoutimi Saguenay QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javad","family":"Nadaf","sequence":"additional","affiliation":[{"name":"Department of Human Genetics McGill University and Genome Quebec Innovation Centre Montreal QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacek","family":"Majewski","sequence":"additional","affiliation":[{"name":"Department of Human Genetics McGill University and Genome Quebec Innovation Centre Montreal QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Morin","sequence":"additional","affiliation":[{"name":"Centre de Sant\u00e9 et de Services Sociaux de Chicoutimi Saguenay QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Laprise","sequence":"additional","affiliation":[{"name":"Centre intersectoriel en sant\u00e9 durable Universit\u00e9 du Qu\u00e9bec \u00e0 Chicoutimi Saguenay QC Canada"},{"name":"D\u00e9partement des Sciences Fondamentales Universit\u00e9 du Qu\u00e9bec \u00e0 Chicoutimi Saguenay QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,10,2]]},"reference":[{"key":"e_1_2_7_2_1","unstructured":"(UW\u2010CMG) N. 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