{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T00:46:10Z","timestamp":1791852370509,"version":"4.3.4"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,3,28]],"date-time":"2017-03-28T00:00:00Z","timestamp":1490659200000},"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":[[2017,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>CHIME syndrome is a rare autosomal recessive neuroectodermal disorder associated with biallelic mutations in <jats:italic>PIGL<\/jats:italic>. To date, six molecularly confirmed cases of CHIME syndrome have been reported. Here, we report the seventh patient with biallelic <jats:italic>PIGL<\/jats:italic> mutations associated with CHIME syndrome and describe the first characterization of an intragenic deletion in <jats:italic>PIGL<\/jats:italic>. Our characterization of the deletion breakpoint junction demonstrated that the breakpoints occurred within <jats:italic>Alu<\/jats:italic> repeats and the deletion was most likely mediated by a microhomology event. Analysis of <jats:italic>PIGL<\/jats:italic> genomic sequences for repetitive elements demonstrated that <jats:italic>Alu<\/jats:italic> repeats represent \u223c34% of its intronic sequence, suggesting that the genomic architecture may predispose the gene to disease\u2010causing copynumber changes. Taken together, these findings indicate that patients with a clinical diagnosis of CHIME syndrome and a single identifiable mutation in <jats:italic>PIGL<\/jats:italic> warrant further investigation for copynumber changes involving <jats:italic>PIGL<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38181","type":"journal-article","created":{"date-parts":[[2017,3,28]],"date-time":"2017-03-28T16:21:33Z","timestamp":1490718093000},"page":"1378-1382","source":"Crossref","is-referenced-by-count":21,"title":["<i>Alu<\/i>\u2010mediated deletion of <i>PIGL<\/i> in a Patient with CHIME syndrome"],"prefix":"10.1002","volume":"173","author":[{"given":"Amy","family":"Knight Johnson","sequence":"first","affiliation":[{"name":"Department of Human Genetics University of Chicago Chicago Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1236-0017","authenticated-orcid":false,"given":"Gerald Bradley","family":"Schaefer","sequence":"additional","affiliation":[{"name":"Section of Genetics and Metabolism Arkansas Children's Hospital Little Rock Arkansas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Lee","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Chicago Chicago Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"del Gaudio","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Chicago Chicago Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,3,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg.2015.25"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36987"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/35057062"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-7-474"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.25.15834"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.010"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971003)72:1<24::AID-AJMG5>3.0.CO;2-V"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.6.465"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1525-1470.2001.018003252.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1996.tb00702.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1985.01660090063015"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1988.01670080014008"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150217"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170324"}],"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.38181","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38181","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.38181","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38181","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T08:47:46Z","timestamp":1693212466000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38181"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,28]]},"references-count":14,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,5]]}},"alternative-id":["10.1002\/ajmg.a.38181"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38181","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,28]]}}}