{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T04:33:59Z","timestamp":1779338039135,"version":"3.51.4"},"reference-count":45,"publisher":"The Endocrine Society","issue":"7","license":[{"start":{"date-parts":[[2024,1,4]],"date-time":"2024-01-04T00:00:00Z","timestamp":1704326400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100007660","name":"University of Antwerp","doi-asserted-by":"publisher","award":["FFB190208"],"award-info":[{"award-number":["FFB190208"]}],"id":[{"id":"10.13039\/501100007660","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Siebe Van Reusel Fonds"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,6,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Osteopathia striata with cranial sclerosis (OSCS) is a rare bone disorder with X-linked dominant inheritance, characterized by a generalized hyperostosis in the skull and long bones and typical metaphyseal striations in the long bones. So far, loss-of-function variants in AMER1 (also known as WTX or FAM123B), encoding the APC membrane recruitment protein 1 (AMER1), have been described as the only molecular cause for OSCS. AMER1 promotes the degradation of \u03b2-catenin via AXIN stabilization, acting as a negative regulator of the WNT\/\u03b2-catenin signaling pathway, a central pathway in bone formation.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>In this study, we describe a Dutch adult woman with an OSCS-like phenotype, namely, generalized high bone mass and characteristic metaphyseal striations, but no genetic variant affecting AMER1.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Whole exome sequencing led to the identification of a mosaic missense variant (c.876A &amp;gt; C; p.Lys292Asn) in CTNNB1, coding for \u03b2-catenin. The variant disrupts an amino acid known to be crucial for interaction with AXIN, a key factor in the \u03b2-catenin destruction complex. Western blotting experiments demonstrate that the p.Lys292Asn variant does not significantly affect the \u03b2-catenin phosphorylation status, and hence stability in the cytoplasm. Additionally, luciferase reporter assays were performed to investigate the effect of p.Lys292Asn \u03b2-catenin on canonical WNT signaling. These studies indicate an average 70-fold increase in canonical WNT signaling activity by p.Lys292Asn \u03b2-catenin.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>In conclusion, this study indicates that somatic variants in the CTNNB1 gene could explain the pathogenesis of unsolved cases of osteopathia striata.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgad757","type":"journal-article","created":{"date-parts":[[2024,1,4]],"date-time":"2024-01-04T07:50:30Z","timestamp":1704354630000},"page":"1891-1898","source":"Crossref","is-referenced-by-count":3,"title":["A Mosaic Variant in <i>CTNNB1<\/i>\/\u03b2-catenin as a Novel Cause for Osteopathia Striata With Cranial 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