{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T04:25:43Z","timestamp":1789273543297,"version":"build-2803163510"},"reference-count":9,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2016,5,6]],"date-time":"2016-05-06T00:00:00Z","timestamp":1462492800000},"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":[[2016,10]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Patients with\n                      <jats:italic>KCNK9<\/jats:italic>\n                      imprinting syndrome demonstrate congenital hypotonia, variable cleft palate, normal MRIs and EEGs, delayed development, and feeding problems. Associated facial dysmorphic features include dolichocephaly with bitemporal narrowing, short philtrum, tented upper lip, palatal abnormalities, and small mandible. This disorder maps to chromosomal region 8q24, and it is caused by a specific missense mutation 770G&gt;A in exon 2, replacing glycine at position 236 by arginine (G236R) in the maternal copy of\n                      <jats:italic>KCNK9<\/jats:italic>\n                      within this locus.\n                      <jats:italic>KCNK9<\/jats:italic>\n                      (also called\n                      <jats:italic>TASK3<\/jats:italic>\n                      ) encodes a member of the two pore\u2010 domain potassium channel (K2P) subfamily. This gene is normally imprinted with paternal silencing, thus a mutation in the maternal copy of the gene will result in disease, whereas a mutation in the paternal copy will have no effect. Exome sequencing in four new patients with developmental delay and central hypotonia revealed de novo G236R mutations. Older members of a previously reported Arab\u2013Israeli family have intellectual disability of variable severity, persistent feeding difficulties in infancy with dysphagia of liquids and dysphonia with a muffled voice in early adulthood, generalized hypotonia, weakness of proximal muscles, elongated face with narrow bitemporal diameter, and reduced facial movements. We describe the clinical features in four recently recognized younger patients and compare them with those found in members of the originally reported Arab\u2013Israeli family and suggest this may be a treatable disorder. \u00a9 2016 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37740","type":"journal-article","created":{"date-parts":[[2016,5,6]],"date-time":"2016-05-06T07:52:48Z","timestamp":1462521168000},"page":"2632-2637","source":"Crossref","is-referenced-by-count":38,"title":["<i>KCNK9<\/i>\n                    imprinting syndrome\u2014further delineation of a possible treatable disorder"],"prefix":"10.1002","volume":"170","author":[{"suffix":"Jr.","given":"John M.","family":"Graham","sequence":"first","affiliation":[{"name":"Department of Pediatrics Harbor\u2010UCLA Medical Center Cedars\u2010Sinai Medical Center, David Geffen School of Medicine at UCLA Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neda","family":"Zadeh","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics CHOC Children's Hospital Orange California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Kelley","sequence":"additional","affiliation":[{"name":"KCNK9 Imprinting Syndrome Support Group Irvine California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ee Shien","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Paediatric Medicine KK Women's and Children's Hospital Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy","family":"Liew","sequence":"additional","affiliation":[{"name":"Department of Paediatric Medicine KK Women's and Children's Hospital Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Paediatric Medicine KK Women's and Children's Hospital Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew A.","family":"Deardorff","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania"},{"name":"Division of Clinical Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Golder N.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Texas Tech University Health Science Center Lubbock Texas"},{"name":"Medical City Hospital Dallas Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lena","family":"Sagi\u2010Dain","sequence":"additional","affiliation":[{"name":"Genetic Institute Emek Medical Center Afula Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stavit A.","family":"Shalev","sequence":"additional","affiliation":[{"name":"Genetic Institute Emek Medical Center Afula Israel"},{"name":"Rapapport Faculty of Medicine Technion Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,5,6]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/cercor\/bhs387"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.07.010"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1427-07.2007"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2009.04.012"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10201"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1124\/jpet.107.129544"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32250"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00424-005-1492-5"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1124\/mol.113.090530"}],"container-title":["American Journal of Medical Genetics Part 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