{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:47:56Z","timestamp":1787021276828,"version":"build-2736575974"},"reference-count":33,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2025,8,19]],"date-time":"2025-08-19T00:00:00Z","timestamp":1755561600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Congenital adrenal hyperplasia can be due to 11\u03b2-hydroxylase deficiency (11\u03b2OHD). Sporadic reports of 11\u03b2OHD are frequent but overviews on molecular landscape in some populations are lacking.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>The aim of this research was to compile a genetic landscape from an 11\u03b2OHD cohort, and to report a novel yet recurrent splice variant.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>An overview of CYP11B1 variants in a cohort of 11\u03b2OHD is presented here. The functional effect of NM_000497.4(CYP11B1):c.954 + 148C &amp;gt; G was studied in silico and in vitro, and a genotype-phenotype correlation study (\u201cSPLICYP\u201d study, No. 22_1787) was conducted. Patients with 11\u03b2OHD who underwent genetic testing at the biochemistry and molecular biology department were considered for inclusion. A total of 250 patients, diagnosed from 1990 to 2024, underwent CYP11B1 sequencing. Forty-four patients carried a novel deep intronic variant (NM_000497.4(CYP11B1):c.954 + 148C &amp;gt; G). Four were excluded from genotype-phenotype correlation due to missing criteria. Functional validation was performed using a Minigene Reporter Assay. We retrospectively analyzed genetic findings, clinical features of 11\u03b2OHD, and hormonal assays.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The Minigene study confirmed that c.954 + 148C &amp;gt; G disrupts splicing by activating a cryptic donor site. Patients carrying this variant had significantly lower steroid precursor levels (P &amp;lt; .034) and delayed pubertal onset (P = .005) compared to severe variant carriers.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This retrospective study provides genetic data in a wide cohort of 11\u03b2OHD, and identifies c.954 + 148C &amp;gt; G as the most recurrent variant in our Caucasian participant recruitment. Screening of deep intronic regions, coupled with functional in vitro tools, must not be overlooked in the strategy to avoid diagnostic failure.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgaf468","type":"journal-article","created":{"date-parts":[[2025,8,18]],"date-time":"2025-08-18T11:19:39Z","timestamp":1755515979000},"page":"800-810","source":"Crossref","is-referenced-by-count":4,"title":["A Recurrent Splice Variant Sheds Light on 11\u03b2-Hydroxylase Deficiency in a Unique Large Cohort"],"prefix":"10.1210","volume":"111","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-9336-6874","authenticated-orcid":false,"given":"Cl\u00e9ment","family":"Janot","sequence":"first","affiliation":[{"name":"Hospices Civils de Lyon, LBMMS, Service de Biochimie et Biologie Mol\u00e9culaire, Centre de Biologie et de Pathologie Est , Lyon F-69000 ,","place":["France"]},{"name":"Universit\u00e9 Claude Bernard Lyon 1, Facult\u00e9 de M\u00e9decine Lyon Est , Lyon F-69008 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