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Here, we report a novel\n                    <jats:italic>Alu<\/jats:italic>\n                    insertion causing Mowat\u2010Wilson syndrome, a rare neurodevelopmental disorder, in an 8\u2010year\u2010old boy displaying the typical clinical features for Mowat\u2010Wilson syndrome. The variant was not initially detected in genome sequencing data, but through deep phenotyping, which pointed to only one plausible candidate gene, manual inspection of genome sequencing alignment data enabled us to identify a de novo heterozygous\n                    <jats:italic>Alu<\/jats:italic>\n                    insertion in exon 8 of the\n                    <jats:italic>ZEB2<\/jats:italic>\n                    gene. Nanopore long\u2010read sequencing confirmed the\n                    <jats:italic>Alu<\/jats:italic>\n                    insertion, leading to the formation of a premature stop codon and likely haploinsufficiency of ZEB2. This underscores the importance of deep phenotyping and mobile element insertion analysis in uncovering genetic causes of monogenic disorders as these elements might be overlooked in standard next\u2010generation sequencing protocols.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63581","type":"journal-article","created":{"date-parts":[[2024,4,11]],"date-time":"2024-04-11T03:39:26Z","timestamp":1712806766000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Novel\n                    <i>Alu<\/i>\n                    insertion in the\n                    <scp>\n                      <i>ZEB2<\/i>\n                    <\/scp>\n                    gene causing\n                    <scp>Mowat\u2010Wilson<\/scp>\n                    syndrome"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7440-679X","authenticated-orcid":false,"given":"Maria","family":"Barington","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mads","family":"Bak","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krist\u00edn R\u00f3s","family":"Kjartansd\u00f3ttir","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas van Overeem","family":"Hansen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark"},{"name":"Department of Clinical Medicine University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulf","family":"Birkedal","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsebet","family":"\u00d8stergaard","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark"},{"name":"Department of Clinical Medicine University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanne Buciek","family":"Hove","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases, Department of Paediatrics and Adolescent Medicine Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,4,11]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.114876.110"},{"key":"e_1_2_13_3_1","volume-title":"GeneReviews(\u00ae)","author":"Adam M. 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