{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T18:57:38Z","timestamp":1768417058311,"version":"3.49.0"},"reference-count":28,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2018,9,5]],"date-time":"2018-09-05T00:00:00Z","timestamp":1536105600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"DOI":"10.3389\/fendo.2018.00491","type":"journal-article","created":{"date-parts":[[2018,9,5]],"date-time":"2018-09-05T04:52:46Z","timestamp":1536123166000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":26,"title":["Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene"],"prefix":"10.3389","volume":"9","author":[{"given":"Claire","family":"Goursaud","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Delphine","family":"Mallet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre","family":"Janin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Menassa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00e9ronique","family":"Tardy-Guidollet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianni","family":"Russo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Lienhardt-Roussie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudine","family":"Lecointre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid","family":"Plotton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Morel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florence","family":"Roucher-Boulez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2018,9,5]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1016\/j.jsbmb.2016.03.009","article-title":"Disorders in the initial steps of steroid hormone synthesis","volume":"165","author":"Miller","year":"2017","journal-title":"J Steroid Biochem Mol Biol."},{"key":"B2","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1016\/S0960-0760(03)00232-2","article-title":"Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenita","volume":"85","author":"Fujieda","year":"2003","journal-title":"J Steroid Biochem Mol Biol."},{"key":"B3","doi-asserted-by":"publisher","first-page":"1955","DOI":"10.1172\/JCI115520","article-title":"Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia","volume":"88","author":"Lin","year":"1991","journal-title":"J Clin Invest."},{"key":"B4","doi-asserted-by":"crossref","first-page":"1828","DOI":"10.1126\/science.7892608","article-title":"Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis","volume":"267","author":"Lin","year":"1995","journal-title":"Science"},{"key":"B5","doi-asserted-by":"publisher","first-page":"972","DOI":"10.1056\/NEJMcibr1100071","article-title":"How does progesterone relax the uterus in pregnancy?","volume":"364","author":"Zakar","year":"2011","journal-title":"N Engl J Med."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1399","DOI":"10.1210\/jcem.83.4.4734-7","article-title":"Why nobody has P450scc (20,22 desmoslase) deficiency","volume":"83","author":"Miller","year":"1998","journal-title":"J Clin Endocrinol Metab."},{"key":"B7","doi-asserted-by":"publisher","first-page":"3820","DOI":"10.1210\/jcem.86.8.7748","article-title":"Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency","volume":"86","author":"Tajima","year":"2001","journal-title":"J Clin Endocrinol Metab."},{"key":"B8","doi-asserted-by":"publisher","first-page":"3808","DOI":"10.1210\/jcem.87.8.8763","article-title":"Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans","volume":"87","author":"Katsumata","year":"2002","journal-title":"J Clin Endocrinol Metab."},{"key":"B9","doi-asserted-by":"publisher","first-page":"538","DOI":"10.1210\/jc.2004-1059","article-title":"Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46, XY sex reversal, and severe adrenal failure","volume":"90","author":"Hiort","year":"2005","journal-title":"J Clin Endocrinol Metab."},{"key":"B10","doi-asserted-by":"publisher","first-page":"2821","DOI":"10.1210\/jc.2005-2230","article-title":"Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum","volume":"91","author":"al Kandari","year":"2006","journal-title":"J Clin Endocrinol Metab."},{"key":"B11","doi-asserted-by":"publisher","first-page":"696","DOI":"10.1210\/jc.2007-2330","article-title":"Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc","volume":"93","author":"Kim","year":"2008","journal-title":"J Clin Endocrinol Metab."},{"key":"B12","doi-asserted-by":"publisher","first-page":"936","DOI":"10.1210\/jc.2008-1118","article-title":"A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient","volume":"94","author":"Rubtsov","year":"2009","journal-title":"J Clin Endocrinol Metab."},{"key":"B13","doi-asserted-by":"publisher","first-page":"792","DOI":"10.1210\/jc.2010-1828","article-title":"Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia","volume":"96","author":"Sahakitrungruang","year":"2011","journal-title":"J Clin Endocrinol Metab."},{"key":"B14","doi-asserted-by":"publisher","first-page":"E1798","DOI":"10.1210\/jc.2011-1277","article-title":"A novel entity of clinically isolated adrenal insufficiency caused by a partially inactivating mutation of the gene encoding for P450 side chain cleavage enzyme (CYP11A1)","volume":"96","author":"Parajes","year":"2011","journal-title":"J Clin Endocrinol Metab."},{"key":"B15","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1530\/EJE-12-0450","article-title":"Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X)","volume":"167","author":"Parajes","year":"2012","journal-title":"Eur J Endocrinol."},{"key":"B16","doi-asserted-by":"publisher","first-page":"713","DOI":"10.1210\/jc.2012-2828","article-title":"Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc","volume":"98","author":"Tee","year":"2013","journal-title":"J Clin Endocrinol Metab."},{"key":"B17","doi-asserted-by":"publisher","first-page":"113","DOI":"10.3389\/fendo.2015.00113","article-title":"Whole-exome sequencing in the differential diagnosis of primary adrenal insufficiency in children","volume":"6","author":"Chan","year":"2015","journal-title":"Front Endocrinol."},{"key":"B18","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1515\/jpem-2015-0255","article-title":"First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic","volume":"29","author":"Pomaha\u010dov\u00e1","year":"2016","journal-title":"J Pediatr Endocrinol Metab."},{"key":"B19","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1210\/jc.2015-3250","article-title":"Rare causes of primary adrenal insufficiency: genetic and clinical characterization of a large nationwide cohort","volume":"101","author":"Guran","year":"2016","journal-title":"J Clin Endocrinol Metab."},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1530\/EDM-16-0059","article-title":"Novel SCC mutation in a patient of Mexican descent with sex reversal, salt-losing crisis and adrenal failure","author":"Kaur","year":"2016","journal-title":"Endocrinol Diabetes Metab Case Rep."},{"key":"B21","doi-asserted-by":"publisher","first-page":"781","DOI":"10.1002\/mgg3.322","article-title":"A novel splice site variant in CYP11A1 in trans with the p","volume":"5","author":"Lara-Velazquez","year":"2017","journal-title":"Mol Genet Genomic Med."},{"key":"B22","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1530\/EJE-16-0056","article-title":"NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects","volume":"175","author":"Roucher-Boulez","year":"2016","journal-title":"Eur J Endocrinol."},{"key":"B23","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1089\/dna.1993.12.371","article-title":"Construction and function of fusion enzymes of the human cytochrome P450scc system","volume":"12","author":"Harikrishna","year":"1993","journal-title":"DNA Cell Biol."},{"key":"B24","doi-asserted-by":"publisher","first-page":"489","DOI":"10.1089\/dna.2015.2842","article-title":"Functional characterization of putative novel splicing mutations in the cardiomyopathy-causing genes","volume":"34","author":"Millat","year":"2015","journal-title":"DNA Cell Biol."},{"key":"B25","doi-asserted-by":"publisher","first-page":"6","DOI":"10.4081\/cardiogenetics.2012.e6","article-title":"Combined use of in silico and in vitro splicing assays for interpretation of genomic variants of unknown significance in cardiomyopathies and channelopathies","volume":"2","author":"Crehalet","year":"2012","journal-title":"Cardiogenetics"},{"key":"B26","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med Off J Am Coll Med Genet."},{"key":"B27","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1136\/jmg.2004.029538","article-title":"Splicing in action: assessing disease causing sequence changes","volume":"42","author":"Baralle","year":"2005","journal-title":"J Med Genet."},{"key":"B28","doi-asserted-by":"publisher","first-page":"E15","DOI":"10.3390\/genes9010015","article-title":"Splicing analysis of exonic OCRL mutations causing lowe syndrome or dent-2 disease","volume":"9","author":"Suarez-Artiles","year":"2018","journal-title":"Genes"}],"container-title":["Frontiers in Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fendo.2018.00491\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,9,5]],"date-time":"2018-09-05T04:52:48Z","timestamp":1536123168000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fendo.2018.00491\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9,5]]},"references-count":28,"alternative-id":["10.3389\/fendo.2018.00491"],"URL":"https:\/\/doi.org\/10.3389\/fendo.2018.00491","relation":{},"ISSN":["1664-2392"],"issn-type":[{"value":"1664-2392","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,9,5]]},"article-number":"491"}}