{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T03:04:19Z","timestamp":1790219059075,"version":"4.1.0"},"reference-count":9,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2015,4,5]],"date-time":"2015-04-05T00:00:00Z","timestamp":1428192000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Estonian Research Council grant","award":["PUT355"],"award-info":[{"award-number":["PUT355"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,8]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Recently, a novel autosomal recessive developmental delay\u2010macrocephaly syndrome was described caused by homozygous or compound heterozygous mutations in the\n                      <jats:italic>KPTN<\/jats:italic>\n                      gene. All reported patients belonged to one large Amish kindred. We report on the second case of\n                      <jats:italic>KPTN<\/jats:italic>\n                      \u2010related syndrome in two Estonian adult sibs. The brother and sister both have macrocephaly and moderate intellectual disability, and their verbal abilities are more affected than motor development. No notable minor anomalies are present. Behavioral problems and a few episodes of seizures were reported in the brother. Whole exome sequencing carried out from the brother's DNA sample identified homozygous one\u2010nucleotide frameshift duplication c.665dupA (p.Q222fs) in the\n                      <jats:italic>KPTN<\/jats:italic>\n                      gene. Homozygosity of both affected sibs and heterozygosity of parents were confirmed by Sanger sequencing. Thus, we confirm the pathogenicity of\n                      <jats:italic>KPTN<\/jats:italic>\n                      mutations and further delineate the novel developmental delay\u2010macrocephaly syndrome. We also support the hypothesis that\n                      <jats:italic>KPTN<\/jats:italic>\n                      \u2010related syndrome is not restricted to the Amish population. \u00a9 2015 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37105","type":"journal-article","created":{"date-parts":[[2015,4,5]],"date-time":"2015-04-05T03:52:39Z","timestamp":1428205959000},"page":"1913-1915","source":"Crossref","is-referenced-by-count":39,"title":["Novel homozygous mutation in\n                    <i>KPTN<\/i>\n                    gene causing a familial intellectual disability\u2010macrocephaly syndrome"],"prefix":"10.1002","volume":"167","author":[{"given":"Sander","family":"Pajusalu","sequence":"first","affiliation":[{"name":"Department of Genetics United Laboratories Tartu University Hospital Tartu Estonia"},{"name":"Institute of Biomedicine and Translational Medicine Department of Biomedicine University of Tartu Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiia","family":"Reimand","sequence":"additional","affiliation":[{"name":"Department of Genetics United Laboratories Tartu University Hospital Tartu Estonia"},{"name":"Institute of Biomedicine and Translational Medicine Department of Biomedicine University of Tartu Tartu Estonia"},{"name":"Department of Paediatrics University of Tartu Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"\u00d5unap","sequence":"additional","affiliation":[{"name":"Department of Genetics United Laboratories Tartu University Hospital Tartu Estonia"},{"name":"Department of Paediatrics University of Tartu Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,4,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.10.001"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-1809.2000.6430189.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2012.00035"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"e_1_2_6_6_1","unstructured":"Exome Aggregation Consortium (ExAC)2015. Cambridge MA (URL:http:\/\/exac.broadinstitute.org) [accessed: Jan 25 2015]."},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp698"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_6_9_1","volume-title":"From FastQ data to high\u2010confidence variant calls: the genome analysis toolkit best practices pipeline","author":"Van der Auwera GA","year":"2013"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"}],"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.37105","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37105","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T07:01:42Z","timestamp":1696575702000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37105"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,5]]},"references-count":9,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2015,8]]}},"alternative-id":["10.1002\/ajmg.a.37105"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37105","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,5]]}}}