{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T05:24:58Z","timestamp":1783488298859,"version":"3.55.0"},"reference-count":43,"publisher":"The Endocrine Society","issue":"5","funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,4,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Fibrous dysplasia\/McCune-Albright syndrome (FD\/MAS) is a rare bone and endocrine disorder resulting in fractures, pain, and disability. There are no targeted or effective therapies to alter the disease course. Disease arises from somatic gain-of-function variants at the R201 codon in GNAS, replacing arginine by either cysteine or histidine. The relative pathogenicity of these variants is not fully understood.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>This work aimed 1) to determine whether the most common GNAS variants (R201C and R201H) are associated with a specific clinical phenotype, and 2) to determine the prevalence of the most common GNAS variants in a large patient cohort.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>This retrospective cross-sectional analysis measured the correlation between genotype and phenotype characterized by clinical, biochemical, and radiographic data.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Sixty-one individuals were genotyped using DNA extracted from tissue or circulating cell-free DNA. Twenty-two patients (36.1%) had the R201C variant, and 39 (63.9%) had the R201H variant. FD skeletal disease burden, hypophosphatemia prevalence, fracture incidence, and ambulation status were similar between the 2 groups. There was no difference in the prevalence of endocrinopathies, ultrasonographic gonadal or thyroid abnormalities, or pancreatic involvement. There was a nonsignificant association of cancer with the R201H variant.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>There is no clear genotype-phenotype correlation in patients with the most common FD\/MAS pathogenic variants. The predominance of the R201H variant observed in our cohort and reported in the literature indicates it is likely responsible for a larger burden of disease in the overall population of patients with FD\/MAS, which may have important implications for the future development of targeted therapies.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgab053","type":"journal-article","created":{"date-parts":[[2021,1,29]],"date-time":"2021-01-29T15:57:51Z","timestamp":1611935871000},"page":"1482-1490","source":"Crossref","is-referenced-by-count":21,"title":["Genotype-Phenotype Correlation in Fibrous Dysplasia\/McCune-Albright Syndrome"],"prefix":"10.1210","volume":"106","author":[{"given":"Maria","family":"Zhadina","sequence":"first","affiliation":[{"name":"Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly L","family":"Roszko","sequence":"additional","affiliation":[{"name":"Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raya E S","family":"Geels","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Endocrinology, Centre for Bone Quality, Leiden University Medical Centre, ZA Leiden, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis F","family":"de Castro","sequence":"additional","affiliation":[{"name":"Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael 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