{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T13:09:01Z","timestamp":1790860141121,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,9,14]],"date-time":"2015-09-14T00:00:00Z","timestamp":1442188800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007880","name":"Johns Hopkins University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007880","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>Mutations in the <jats:italic>PIGN<\/jats:italic> gene involved in the glycosylphoshatidylinositol (GPI) anchor biosynthesis pathway cause Multiple Congenital Anomalies\u2013Hypotonia\u2013Seizures syndrome 1 (MCAHS1). The syndrome manifests developmental delay, hypotonia, and epilepsy, combined with multiple congenital anomalies. We report on the identification of a homozygous novel c.755A&gt;T (p.D252V) deleterious mutation in a patient with Israeli\u2013Arab origin with MCAHS1. The mutated <jats:italic>PIGN<\/jats:italic> caused a significant decrease of the overall GPI\u2010anchored proteins and CD24 expression. Our results, strongly support previously published data, that partial depletion of GPI\u2010anchored proteins is sufficient to cause severe phenotypic expression. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37375","type":"journal-article","created":{"date-parts":[[2015,9,14]],"date-time":"2015-09-14T06:09:51Z","timestamp":1442210991000},"page":"176-182","source":"Crossref","is-referenced-by-count":28,"title":["A <i>PIGN<\/i> mutation responsible for multiple congenital anomalies\u2013hypotonia\u2013seizures syndrome 1 (MCAHS1) in an Israeli\u2013Arab family"],"prefix":"10.1002","volume":"170","author":[{"given":"Morad","family":"Khayat","sequence":"first","affiliation":[{"name":"Genetics Institute Ha'Emek Medical center Afula Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph Mark","family":"Tilghman","sequence":"additional","affiliation":[{"name":"Center for Complex Disease Genomics McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilana","family":"Chervinsky","sequence":"additional","affiliation":[{"name":"Genetics Institute Ha'Emek Medical center Afula Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Zalman","sequence":"additional","affiliation":[{"name":"The Hematology Laboratory Ha'Emek Medical center Afula Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aravinda","family":"Chakravarti","sequence":"additional","affiliation":[{"name":"Center for Complex Disease Genomics McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stavit A.","family":"Shalev","sequence":"additional","affiliation":[{"name":"Genetics Institute Ha'Emek Medical center Afula Israel"},{"name":"Rappaport Faculty of Medicine Technion \u2010 Israel Institute of Technology Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,9,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm1410"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.05.001"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(12)70040-6"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.03.008"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.49.35099"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34102"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0077940"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.031"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.03.011"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.653"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-101654"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_6_14_1","unstructured":"LiH.2013. Aligning sequence reads clone sequences and assembly contigs with BWA\u2010MEM. arXiv preprint arXiv:1303. 3997."},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.087114"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.010"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-013-0384-7"},{"key":"e_1_2_6_18_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.37375","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37375","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T04:47:35Z","timestamp":1696567655000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37375"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9,14]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,1]]}},"alternative-id":["10.1002\/ajmg.a.37375"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37375","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,9,14]]}}}