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We report a 5-yr-old female who presented with symptoms of tetany due to hypocalcemia and was subsequently found to be secondary to hypoparathyroidism. Rapid trio whole-genome sequencing revealed compound heterozygous variants in <jats:italic>AIRE<\/jats:italic> in the proband, with a paternally inherited, pathogenic, frameshift variant (c.1265delC; p.Pro422LeufsTer58) and a novel, likely pathogenic, maternally inherited missense variant (c.268T&gt;C; p.Tyr90His).<\/jats:p>","DOI":"10.1101\/mcs.a002485","type":"journal-article","created":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T20:40:29Z","timestamp":1517517629000},"page":"a002485","source":"Crossref","is-referenced-by-count":11,"title":["Rapid whole-genome sequencing identifies a novel <i>AIRE<\/i> variant associated with autoimmune polyendocrine syndrome type 1"],"prefix":"10.1101","volume":"4","author":[{"given":"Erica","family":"Sanford","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly","family":"Watkins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shareef","family":"Nahas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Gottschalk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole G.","family":"Coufal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauge","family":"Farnaes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Dimmock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen F.","family":"Kingsmore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the RCIGM Investigators","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2018,2,1]]},"reference":[{"key":"2021112506143454000_4.3.a002485.1","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/eji.201545792","article-title":"AIRE: from promiscuous molecular partnerships to promiscuous gene expression","volume":"46","year":"2016","journal-title":"Eur J Immunol"},{"key":"2021112506143454000_4.3.a002485.2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-64-3-494"},{"key":"2021112506143454000_4.3.a002485.3","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199006283222601"},{"key":"2021112506143454000_4.3.a002485.4","doi-asserted-by":"crossref","first-page":"2975","DOI":"10.1210\/jc.2016-1821","article-title":"A longitudinal follow-up of autoimmune polyendocrine syndrome type 1","volume":"101","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"2021112506143454000_4.3.a002485.5","doi-asserted-by":"publisher","DOI":"10.1210\/jc.86.10.4747"},{"key":"2021112506143454000_4.3.a002485.6","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1586\/14737159.2013.811907","article-title":"Clinical analysis of genome next-generation sequencing data using the Omicia platform","volume":"13","year":"2013","journal-title":"Expert Rev Mol Diagn"},{"key":"2021112506143454000_4.3.a002485.7","first-page":"331","article-title":"APECED: a paradigm of complex interactions between genetic background and susceptibility factors","volume":"4","year":"2013","journal-title":"Front Immunol"},{"key":"2021112506143454000_4.3.a002485.8","first-page":"e88782","article-title":"Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy","volume":"1","year":"2016","journal-title":"JCI Insight"},{"key":"2021112506143454000_4.3.a002485.9","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2012-008116"},{"key":"2021112506143454000_4.3.a002485.10","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:1<69::AID-HUMU8>3.0.CO;2-6"},{"key":"2021112506143454000_4.3.a002485.11","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1176"},{"key":"2021112506143454000_4.3.a002485.12","unstructured":"http:\/\/evs.gs.washington.edu\/EVS\/ . 2016. 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