{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T14:49:03Z","timestamp":1787064543349,"version":"build-2736575974"},"reference-count":30,"publisher":"The Endocrine Society","issue":"7","license":[{"start":{"date-parts":[[2024,1,23]],"date-time":"2024-01-23T00:00:00Z","timestamp":1705968000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"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\/100000069","name":"NIAMS","doi-asserted-by":"publisher","award":["R01AR077869"],"award-info":[{"award-number":["R01AR077869"]}],"id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000069","name":"NIAMS","doi-asserted-by":"publisher","award":["P30AR072581"],"award-info":[{"award-number":["P30AR072581"]}],"id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The Indiana Center"},{"name":"Musculoskeletal Health Clinical Research Cores"},{"DOI":"10.13039\/100006108","name":"NCATS","doi-asserted-by":"publisher","award":["UL1TR002529"],"award-info":[{"award-number":["UL1TR002529"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006975","name":"The Indiana Clinical and Translational Sciences Institute","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100006975","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Ancient Accepted Scottish Rite"},{"name":"Valley of Indianapolis"}],"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>Autosomal dominant osteopetrosis (ADO) is a rare genetic disorder resulting from impaired osteoclastic bone resorption. Clinical manifestations frequently include fractures, osteonecrosis (particularly of the jaw or maxilla), osteomyelitis, blindness, and\/or bone marrow failure. ADO usually results from heterozygous missense variants in the Chloride Channel 7 gene (CLCN7) that cause disease by a dominant negative mechanism. Variants in the T-cell immune regulator 1 gene (TCIRG1) are commonly identified in autosomal recessive osteopetrosis but have only been reported in 1 patient with ADO.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Description<\/jats:title>\n                    <jats:p>Here, we report 3 family members with a single heterozygous missense variant (p.Gly579Arg) in TCIRG1 who have a phenotype consistent with ADO. Three of 5 protein prediction programs suggest this variant likely inhibits the function of TCIRG1.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This is the first description of adult presentation of ADO caused by a TCIRG1 variant. Similar to families with ADO from CLCN7 mutations, this variant in TCIRG1 results in marked phenotype variability, with 2 subjects having severe disease and the third having very mild disease. This family report implicates TCIRG1 missense mutations as a cause of ADO and demonstrates that the marked phenotypic variability in ADO may extend to disease caused by TCIRG1 missense mutations.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/clinem\/dgae040","type":"journal-article","created":{"date-parts":[[2024,1,20]],"date-time":"2024-01-20T15:24:12Z","timestamp":1705764252000},"page":"1726-1732","source":"Crossref","is-referenced-by-count":7,"title":["Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the\n                    <i>TCIRG1<\/i>\n                    Gene"],"prefix":"10.1210","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2887-0513","authenticated-orcid":false,"given":"Wade","family":"Jodeh","sequence":"first","affiliation":[{"name":"Department of Medicine, Indiana University School of Medicine , Indianapolis, IN 46202 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy J","family":"Katz","sequence":"additional","affiliation":[{"name":"Department of Medicine, Indiana University School of Medicine , Indianapolis, IN 46202 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marian","family":"Hart","sequence":"additional","affiliation":[{"name":"Department of Medicine, Indiana University School of Medicine , Indianapolis, IN 46202 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart J","family":"Warden","sequence":"additional","affiliation":[{"name":"Department of Physical Therapy, Indiana University School of Health & Human Sciences , Indianapolis, IN 46202 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Niziolek","sequence":"additional","affiliation":[{"name":"Department of Radiology, Indiana University School of Medicine , Indianapolis, IN 46202 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imranul","family":"Alam","sequence":"additional","affiliation":[{"name":"Department of Medicine, Indiana University School of Medicine , Indianapolis, IN 46202 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4343-6723","authenticated-orcid":false,"given":"Steven","family":"Ing","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Diabetes, and Metabolism, Ohio State University Wexner Medical Center , Columbus, OH 43210 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynda E","family":"Polgreen","sequence":"additional","affiliation":[{"name":"The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center , Torrance, CA 90502 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik A","family":"Imel","sequence":"additional","affiliation":[{"name":"Department of Medicine, Indiana University School of Medicine , Indianapolis, IN 46202 , USA"},{"name":"Department of Pediatrics, Indiana University School of Medicine , Indianapolis, IN 46202 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J","family":"Econs","sequence":"additional","affiliation":[{"name":"Department of Medicine, Indiana University School of Medicine , Indianapolis, IN 46202 , USA"},{"name":"Department of Medical and Molecular Genetics, Indiana University School of Medicine , Indianapolis, IN 46202 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2024,1,23]]},"reference":[{"issue":"3","key":"2024061623524530000_dgae040-B1","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1210\/jc.2006-1986","article-title":"Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene 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