{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T15:55:32Z","timestamp":1792079732315,"version":"4.4.0"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,3,25]],"date-time":"2014-03-25T00:00:00Z","timestamp":1395705600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>L1 syndrome is a group of overlapping, X\u2010linked disorders caused by mutations in <jats:italic>L1CAM<\/jats:italic>. Clinical phenotypes within L1 syndrome include X\u2010linked hydrocephalus with stenosis of the aqueduct of sylvius (HSAS); mental retardation, adducted thumbs, shuffling gait, and aphasia (MASA) syndrome; spastic paraplegia type 1; and agenesis of the corpus callosum. Over 200 mutations in <jats:italic>L1CAM<\/jats:italic> have been reported; however, only a few large gene deletions have been observed. We report on a 4\u2010month\u2010old male with a de novo whole gene deletion of <jats:italic>L1CAM<\/jats:italic> presenting with congenital hydrocephalus, aqueductal stenosis, and adducted thumbs. Initial failure of <jats:italic>L1CAM<\/jats:italic> gene sequencing suggested the possibility of a whole gene deletion of <jats:italic>L1CAM<\/jats:italic>. Further investigation through chromosome microarray analysis showed a 62Kb deletion encompassing the first exon of the <jats:italic>PDZD4<\/jats:italic> gene and the entire <jats:italic>L1CAM<\/jats:italic> gene. Investigations into genotype\u2013phenotype correlations have suggested that mutations leading to truncated or absent L1 protein cause more severe forms of L1 syndrome. Based on the presentation of the proband and other reported patients with whole gene deletions, we provide further evidence that <jats:italic>L1CAM<\/jats:italic> whole gene deletions result in L1 syndrome with a severe phenotype, deletions of <jats:italic>PDZD4<\/jats:italic> do not cause additional manifestations, and that X\u2010linked nephrogenic diabetes insipidus reported in a subset of patients with large <jats:italic>L1CAM<\/jats:italic> deletions results from the loss of <jats:italic>AVPR2<\/jats:italic>. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36474","type":"journal-article","created":{"date-parts":[[2014,3,25]],"date-time":"2014-03-25T17:11:13Z","timestamp":1395767473000},"page":"1555-1558","source":"Crossref","is-referenced-by-count":15,"title":["<i>L1CAM<\/i> whole gene deletion in a child with L1 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Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Hanson","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics University of Utah Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Stevenson","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics University of Utah Salt Lake City 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