{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T18:55:40Z","timestamp":1740164140154,"version":"3.37.3"},"reference-count":20,"publisher":"Wiley","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/501100003074","name":"Agencia Nacional de Promoci\u00f3n Cient\u00edfica y Tecnol\u00f3gica","doi-asserted-by":"publisher","award":["PICT 2006-00208","X059"],"award-info":[{"award-number":["PICT 2006-00208","X059"]}],"id":[{"id":"10.13039\/501100003074","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010253","name":"Secretar\u00eda de Ciencia y T\u00e9cnica","doi-asserted-by":"crossref","award":["PICT 2006-00208","X059"],"award-info":[{"award-number":["PICT 2006-00208","X059"]}],"id":[{"id":"10.13039\/501100010253","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:p>Congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for 90%\u201395% of cases. This autosomal recessive disorder has a broad spectrum of clinical forms, ranging from severe or classical, which includes the salt-wasting and simple virilizing forms, to the mild late onset or nonclassical form. Most of the disease-causing mutations described are likely to be the consequence of nonhomologous recombination or gene conversion events between the active<jats:italic>CYP21A2<\/jats:italic>gene and its homologous CYP21A1P pseudogene. Nevertheless, an increasing number of naturally occurring mutations have been found. The change p.H62L is one of the most frequent rare mutations of the<jats:italic>CYP21A2<\/jats:italic>gene. It was suggested that the p.H62L represents a mild mutation that may be responsible for a more severe enzymatic impairment when presented with another mild mutation on the same allele. In this report, a 20-year-old woman carrying an isolated p.H62L mutation in compound heterozygosity with c.283-13A\/C&gt;G mutation is described. Although a mildly nonclassical phenotype was expected, clinical signs and hormonal profile of the patient are consistent with a more severe simple virilizing form of 21-hydroxylase deficiency. The study of genotype-phenotype correlation in additional patients would help in defining the role of p.H62L in disease manifestation.<\/jats:p>","DOI":"10.1155\/2013\/143781","type":"journal-article","created":{"date-parts":[[2013,7,7]],"date-time":"2013-07-07T21:01:02Z","timestamp":1373230862000},"page":"1-4","source":"Crossref","is-referenced-by-count":0,"title":["Isolated p.H62L Mutation in the<i>CYP21A2<\/i>Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient"],"prefix":"10.1155","volume":"2013","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9488-901X","authenticated-orcid":true,"given":"Melisa","family":"Taboas","sequence":"first","affiliation":[{"name":"Centro Nacional de Gen\u00e8tica M\u00e9dica, ANLIS \u201cDr. Carlos G. Malbr\u00e1n\u201d, Buenos Aires, Argentina"},{"name":"Instituto de Biolog\u00eca y Medicina Experimetal, CONICET, Buenos Aires, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecilia","family":"Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e8tica M\u00e9dica, ANLIS \u201cDr. Carlos G. Malbr\u00e1n\u201d, Buenos Aires, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susana","family":"Belli","sequence":"additional","affiliation":[{"name":"Divisi\u00f2n Endocrinolog\u00eda, Hospital Durand, Buenos Aires, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noemi","family":"Buzzalino","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e8tica M\u00e9dica, ANLIS \u201cDr. Carlos G. Malbr\u00e1n\u201d, Buenos Aires, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4868-163X","authenticated-orcid":true,"given":"Liliana","family":"Alba","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e8tica M\u00e9dica, ANLIS \u201cDr. Carlos G. Malbr\u00e1n\u201d, Buenos Aires, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liliana","family":"Dain","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e8tica M\u00e9dica, ANLIS \u201cDr. Carlos G. Malbr\u00e1n\u201d, Buenos Aires, Argentina"},{"name":"Instituto de Biolog\u00eca y Medicina Experimetal, CONICET, Buenos Aires, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","first-page":"1881","volume-title":"The adrenal hyperplasias","volume":"2","year":"1989"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.78.2.241"},{"issue":"5","key":"3","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1210\/jcem-62-5-995","volume":"62","year":"1986","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"issue":"1","key":"4","first-page":"17","volume":"42","year":"1988","journal-title":"American Journal of Human Genetics"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1210\/er.21.3.245"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-2701"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-2594"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1221133110"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1046\/j.0300-0664.2001.01419.x"},{"issue":"3","key":"10","first-page":"253","volume":"67","year":"2007","journal-title":"Medicina"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0015899"},{"issue":"2","key":"12","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1111\/j.1432-1033.1993.tb17950.x","volume":"214","year":"1993","journal-title":"European Journal of Biochemistry"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.53.38097"},{"issue":"12","key":"14","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1093\/hmg\/5.12.2039","volume":"5","year":"1996","journal-title":"Human Molecular Genetics"},{"issue":"8","key":"15","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1111\/j.1651-2227.2002.tb02851.x","volume":"91","year":"2002","journal-title":"Acta Paediatrica"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-11-104"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1297\/cpe.18.111"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2010.0080"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-3343"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1300057110"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2013\/143781.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2013\/143781.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2013\/143781.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,8]],"date-time":"2020-05-08T17:48:20Z","timestamp":1588960100000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crig\/2013\/143781\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"references-count":20,"alternative-id":["143781","143781"],"URL":"https:\/\/doi.org\/10.1155\/2013\/143781","relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"type":"print","value":"2090-6544"},{"type":"electronic","value":"2090-6552"}],"subject":[],"published":{"date-parts":[[2013]]}}}