{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T21:52:27Z","timestamp":1774389147397,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,12,20]],"date-time":"2013-12-20T00:00:00Z","timestamp":1387497600000},"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":[[2014,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Phelan\u2010McDermid syndrome, also known as the 22q13 deletion syndrome, is a chromosomal microdeletion syndrome characterized by neonatal hypotonia, normal growth, profound developmental delay, absent or delayed speech, and minor dysmorphic features. Almost all of the 22q13 deletions published so far have been described as terminal. It is believed that the <jats:italic>SHANK3<\/jats:italic> gene is the major candidate gene for the neurologic features of the syndrome. Here we describe a patient with a 0.72\u2010Mb interstitial 22q13.2 deletion, intellectual disability, autistic behavior, epilepsy, mild dysmorphic features, and no deletion in the <jats:italic>SHANK3<\/jats:italic> gene. The patient also has urticarial rash and an elevated level of immunoglobulin E, the latter has previously been described only once in a patient with monosomy 22q13.2\u2010qter and <jats:italic>SHANK3<\/jats:italic> gene deletion. To our knowledge, this is one of the smallest interstitial deletion in this region which has been published up to now. Although the patient has the classic phenotype of the 22q13 terminal deletion syndrome, the etiology for the neurologic and immunological features must be due to genes located more proximal to <jats:italic>SHANK3<\/jats:italic> and this is also supported by other previously published cases of interstitial 22q13.2 deletions. The deleted area in our patient is gene\u2010rich (26 genes), containing several known genes with different functions. Two of them\u2014<jats:italic>NFAM1<\/jats:italic> and <jats:italic>TNFRSF13C<\/jats:italic> are involved in immune system functioning. We suggest the haploinsufficiency of these genes might be related to hyper IgE syndrome in our patient. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36358","type":"journal-article","created":{"date-parts":[[2013,12,21]],"date-time":"2013-12-21T00:55:47Z","timestamp":1387587347000},"page":"806-809","source":"Crossref","is-referenced-by-count":26,"title":["A patient with the classic features of Phelan\u2010McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72\u2010Mb deletion in the 22q13.2 region"],"prefix":"10.1002","volume":"164","author":[{"given":"Kristi","family":"Simenson","sequence":"first","affiliation":[{"name":"Department of Genetics United Laboratories Tartu University Hospital Tartu Estonia"},{"name":"Medical Faculty University of Tartu Tartu Estonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eve","family":"\u00d5iglane\u2010Shlik","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Tartu Tartu Estonia"},{"name":"Children's Clinic Tartu University Hospital Tartu Estonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Teek","sequence":"additional","affiliation":[{"name":"Department of Genetics United Laboratories Tartu University Hospital Tartu Estonia"},{"name":"Department of Pediatrics University of Tartu Tartu Estonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kati","family":"Kuuse","sequence":"additional","affiliation":[{"name":"Department of Genetics United Laboratories Tartu University Hospital Tartu Estonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrin","family":"\u00d5unap","sequence":"additional","affiliation":[{"name":"Department of Genetics United Laboratories Tartu University 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Estonia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,12,20]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33542"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002173"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.06.004"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33253"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000529)92:3<195::AID-AJMG7>3.0.CO;2-D"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992280404300106"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201456"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200504000-00001"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.9.690"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.114.2.451"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0401119101"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-14"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010615)101:2<91::AID-AJMG1340>3.0.CO;2-C"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00418-006-0199-9"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34158"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.9.588"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100225"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1061965"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-008-0732-z"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.8.575"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.107"}],"container-title":["American 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