{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T21:02:33Z","timestamp":1761512553955},"reference-count":19,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2008,6,13]],"date-time":"2008-06-13T00:00:00Z","timestamp":1213315200000},"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":[[2008,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on an infant boy with congenital hydrocephalus due to L1 syndrome and polyuria due to diabetes insipidus. We initially believed his excessive urine loss was from central diabetes insipidus and that the cerebral malformation caused a secondary insufficient pituitary vasopressin release. However, he failed to respond to treatment with a vasopressin analogue, which pointed to nephrogenic diabetes insipidus (NDI). L1 syndrome and X\u2010linked NDI are distinct clinical disorders caused by mutations in the <jats:italic>L1CAM<\/jats:italic> and <jats:italic>AVPR2<\/jats:italic> genes, respectively, located in adjacent positions in Xq28. In this boy we found a deletion of 61,577 basepairs encompassing the entire <jats:italic>L1CAM<\/jats:italic> and <jats:italic>AVPR2<\/jats:italic> genes and extending into intron 7 of the <jats:italic>ARHGAP4<\/jats:italic> gene. To our knowledge this is the first description of a patient with a deletion of these three genes. He is the second patient to be described with L1 syndrome and NDI. During follow\u2010up he manifested complications from the hydrocephalus and NDI including global developmental delay and growth failure with low IGF\u20101 and hypothyroidism. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32386","type":"journal-article","created":{"date-parts":[[2008,6,14]],"date-time":"2008-06-14T02:27:50Z","timestamp":1213410470000},"page":"1853-1858","source":"Crossref","is-referenced-by-count":19,"title":["Nephrogenic diabetes insipidus in a patient with L1 syndrome: A new report of a contiguous gene deletion syndrome including <i>L1CAM<\/i> and <i>AVPR2<\/i>"],"prefix":"10.1002","volume":"146A","author":[{"given":"No\u00ebl B.B.","family":"Knops","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krista K.","family":"Bos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mieke","family":"Kerstjens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin","family":"van Dael","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yvonne J.","family":"Vos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,6,13]]},"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":"10.1016\/j.clim.2006.05.001"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/17.suppl_9.42"},{"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":"10.1186\/1471-2156-7-53"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-007-0326-5"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1994.tb04019.x"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03346263"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01457416"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-006-0424-8"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.77.1.32"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1380170"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.82.10.3434"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-004-0153-4"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)14:2<163::AID-HUMU8>3.0.CO;2-B"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh073"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31536"},{"key":"e_1_2_7_20_1","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.1681\/ASN.V1091958","article-title":"Clinical presentation and follow\u2010up of 30 patients with congenital nephrogenic insipidus","volume":"10","author":"Van Lieburg A","year":"1999","journal-title":"J Am Soc Nephrol"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32386","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32386","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T12:53:15Z","timestamp":1699966395000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32386"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,6,13]]},"references-count":19,"journal-issue":{"issue":"14","published-print":{"date-parts":[[2008,7,15]]}},"alternative-id":["10.1002\/ajmg.a.32386"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32386","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,6,13]]}}}