{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T16:18:36Z","timestamp":1778948316779,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2011,9,19]],"date-time":"2011-09-19T00:00:00Z","timestamp":1316390400000},"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":[[2011,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Interstitial deletions of chromosome band Xq26.3 are rare. We report on a 2\u2010year\u2010old boy in whom array comparative genomic hybridization analysis revealed an interstitial 314\u2009kb deletion in Xq26.3 affecting <jats:italic>SLC9A6<\/jats:italic> and <jats:italic>FHL1.<\/jats:italic> Mutations in <jats:italic>SLC9A6<\/jats:italic> are associated with Christianson syndrome (OMIM 300243), a syndromic form of X\u2010linked mental retardation (XLMR) characterized by microcephaly, severe global developmental delay, ataxia and seizures. <jats:italic>FHL1<\/jats:italic> mutations cause Emery\u2013Dreifuss muscular dystrophy (OMIM 310300), X\u2010linked myopathy with postural muscle atrophy (XMPMA, OMIM 300696), scapuloperoneal myopathy (OMIM 300695), or reducing body myopathy (OMIM 300717, 300718). The clinical problems of the patient reported here comprised severe intellectual disability, absent speech, ataxia, epilepsy, and gastroesophageal reflux, and could mostly be attributed to <jats:italic>SLC9A6<\/jats:italic> insufficiency. In contrast to the majority of reported Christianson syndrome patients who were microcephalic, this patient was normocephalic, but his head circumference had decelerated from the 50th centile at birth to the 25th centile at the age of <jats:styled-content>$2{\\raise0.5ex\\hbox{$\\scriptstyle 2$}\\kern-0.1em\/\\kern-0.15em\\lower0.25ex\\hbox{$\\scriptstyle {12}$}}$<jats:inline-graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"graphic\/tex2gif-ueqn-1.gif\" xlink:title=\"equation image\"\/><\/jats:styled-content> years. Muscle problems due to the <jats:italic>FHL1<\/jats:italic> deletion are not to be expected before late childhood, which is the earliest age of onset for <jats:italic>FHL1<\/jats:italic> associated Emery\u2013Dreifuss muscular dystrophy. This patient broadens the spectrum of <jats:italic>SLC9A6<\/jats:italic> mutations and contributes to the clinical delineation of Christianson syndrome. This is also the first patient with a deletion affecting both <jats:italic>SLC9A6<\/jats:italic> and the complete <jats:italic>FHL1<\/jats:italic> gene. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34230","type":"journal-article","created":{"date-parts":[[2011,9,19]],"date-time":"2011-09-19T21:03:36Z","timestamp":1316466216000},"page":"2771-2774","source":"Crossref","is-referenced-by-count":11,"title":["Christianson syndrome in a patient with an interstitial Xq26.3 deletion"],"prefix":"10.1002","volume":"155","author":[{"given":"Andreas","family":"Tzschach","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reinhard","family":"Ullmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alischo","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Martin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georg","family":"Weber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oliver","family":"Decker\u2010Schwering","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernand","family":"Pauly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed Ghiath","family":"Shamdeen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang","family":"Reith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Oehl\u2010Jaschkowitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,9,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-6-85"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2010.06.017"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.10.759"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq071"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.01.013"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.07.015"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21839"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.013"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn325"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0030-1254101"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181b2a4b3"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33093"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000341311.84347.a0"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.367"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.004"}],"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.34230","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34230","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:12:37Z","timestamp":1697613157000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34230"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9,19]]},"references-count":15,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2011,11]]}},"alternative-id":["10.1002\/ajmg.a.34230"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34230","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,9,19]]}}}