{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,6,2]],"date-time":"2023-06-02T06:29:32Z","timestamp":1685687372927},"reference-count":13,"publisher":"Walter de Gruyter GmbH","issue":"9","funder":[{"name":"JSPS KAKENHI","award":["16K10005 (to YN and NK) and JP17K10091 (to NK)"],"award-info":[{"award-number":["16K10005 (to YN and NK) and JP17K10091 (to NK)"]}]},{"name":"a Health and Labor Sciences Research Grant for research on intractable diseases from the Ministry of Health, Labor and Welfare of Japan","award":["Nanbyo-Ippan-046 to NK"],"award-info":[{"award-number":["Nanbyo-Ippan-046 to NK"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,9,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2022-0120_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Mutations in the dosage-sensitive sex reversal-AHC critical region on the X chromosome, gene 1 (<jats:italic>DAX-1<\/jats:italic>, officially <jats:italic>NR0B1<\/jats:italic>), cause X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HHG). Salt-losing adrenal insufficiency usually occurs during the\u00a0neonatal period or early childhood. We report a novel non-stop variant of <jats:italic>NR0B1<\/jats:italic> in two siblings and their unusual clinical course.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0120_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>The proband was a boy who presented with an unusual form of AHC with neonatal onset of growth failure and mild salt loss, but without cutaneous pigmentation or plasma ACTH elevation. His 4-year-old elder brother had been growing healthily, but carried an AHC diagnosis. A non-stop variant of <jats:italic>NR0B1<\/jats:italic> (p.*471K) was demonstrated in the patients and their mother.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0120_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>We identified a novel non-stop variant of\u00a0<jats:italic>NR0B1<\/jats:italic> in two siblings. Mild salt loss associated with\u00a0hyperkalemia is a crucial diagnostic clue for AHC,\u00a0even without apparent symptoms of glucocorticoid deficiency.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2022-0120","type":"journal-article","created":{"date-parts":[[2022,7,14]],"date-time":"2022-07-14T19:37:59Z","timestamp":1657827479000},"page":"1189-1193","source":"Crossref","is-referenced-by-count":1,"title":["Novel non-stop variant of the <i>NR0B1<\/i> gene in\u00a0two\u00a0siblings with adrenal hypoplasia congenita"],"prefix":"10.1515","volume":"35","author":[{"given":"Tomoko","family":"Ota","sequence":"first","affiliation":[{"name":"Division of Endocrinology and Metabolism , National Center for Child Health and Development , Tokyo , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriyuki","family":"Katsumata","sequence":"additional","affiliation":[{"name":"Department of Molecular Endocrinology , Research Institute, National Center for Child Health and Development , Tokyo , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuhiro","family":"Naiki","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism , National Center for Child Health and Development , Tokyo , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reiko","family":"Horikawa","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism , National Center for Child Health and Development , Tokyo , Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2022,7,14]]},"reference":[{"key":"2023033121130457267_j_jpem-2022-0120_ref_001","doi-asserted-by":"crossref","unstructured":"Zanaria, E, Muscatelli, F, Bardoni, B, Strom, TM, Guioli, S, Guo, W, et al.. 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Hum Genet 2007;121:297."}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0120\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0120\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T10:52:07Z","timestamp":1680346327000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2022-0120\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,14]]},"references-count":13,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2022,8,30]]},"published-print":{"date-parts":[[2022,9,27]]}},"alternative-id":["10.1515\/jpem-2022-0120"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2022-0120","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,14]]}}}