{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T17:46:36Z","timestamp":1791999996503,"version":"4.4.0"},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2007,2,22]],"date-time":"2007-02-22T00:00:00Z","timestamp":1172102400000},"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":[[2007,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>X\u2010linked hydrocephalus with aqueductal stenosis (HSAS) is caused by mutation or deletion of the L1 cell adhesion molecule gene (<jats:italic>L1CAM<\/jats:italic>) at Xq28. Central diabetes insipidus (CDI) can arise as a consequence of resultant hypothalamic dysfunction from hydrocephalus and must be distinguished from nephrogenic diabetes insipidus (NDI) by exogenous vasopressin response. Causes of NDI are heterogeneous and include mutation or deletion of the arginine vasopressin receptor 2 gene (<jats:italic>AVPR2<\/jats:italic>), which is located \u223c29 kb telomeric to <jats:italic>L1CAM<\/jats:italic>. We identified a patient with both HSAS and NDI where DNA sequencing failure suggested the possibility of a contiguous gene deletion. A 32.7 kb deletion mapping from <jats:italic>L1CAM<\/jats:italic> intron1 to <jats:italic>AVPR2<\/jats:italic> exon2 was confirmed. A 90 bp junctional insertion fragment sharing short direct repeat homology with flanking sequences was identified. To our knowledge this is the first reported case of an Xq28 microdeletion involving both <jats:italic>L1CAM<\/jats:italic> and <jats:italic>AVPR2<\/jats:italic>, defining a new contiguous gene syndrome comprised of HSAS and NDI. Contiguous gene deletion should be considered as a mechanism for all patients presenting with hydrocephalus and NDI. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31536","type":"journal-article","created":{"date-parts":[[2007,2,22]],"date-time":"2007-02-22T22:56:31Z","timestamp":1172184991000},"page":"594-598","source":"Crossref","is-referenced-by-count":22,"title":["Contiguous gene deletion involving <i>L1CAM<\/i> and <i>AVPR2<\/i> causes X\u2010linked hydrocephalus with nephrogenic diabetes insipidus"],"prefix":"10.1002","volume":"143A","author":[{"given":"David H.","family":"Tegay","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew H.","family":"Lane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasmin","family":"Roohi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eli","family":"Hatchwell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,2,22]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"1095","article-title":"Nephrogenic diabetes insipidus in a female infant with hydrocephalus","volume":"140","author":"Aggarwal R","year":"1986","journal-title":"Am J Dis Child"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.V1161044"},{"key":"e_1_2_7_4_1","volume-title":"Endocrinology","author":"DeGroot LJ","year":"2006"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10011"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.5.399"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1993.1705"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2005040371"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.1.23"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90150-D"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0794-402"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.1.59"},{"key":"e_1_2_7_13_1","doi-asserted-by":"crossref","first-page":"9319","DOI":"10.1016\/S0021-9258(19)38851-9","article-title":"Alpha\u2010galactosidase A gene rearrangements causing Fabry disease. 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