دورية أكاديمية
Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene.
| العنوان: | Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene. |
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| المؤلفون: | Jodeh W; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Katz AJ; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Hart M; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Warden SJ; Department of Physical Therapy, Indiana University School of Health & Human Sciences, Indianapolis, IN 46202, USA., Niziolek P; Department of Radiology, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Alam I; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Ing S; Division of Endocrinology, Diabetes, and Metabolism, Ohio State University Wexner Medical Center, Columbus, OH 43210, USA., Polgreen LE; The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA 90502, USA., Imel EA; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA.; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Econs MJ; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA.; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA. |
| المصدر: | The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Jun 17; Vol. 109 (7), pp. 1726-1732. |
| نوع المنشور: | Journal Article; Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2017- : New York : Oxford University Press Original Publication: Springfield, Ill. : Charles C. Thomas |
| مواضيع طبية MeSH: | Osteopetrosis*/genetics , Mutation, Missense* , Pedigree*, Humans ; Male ; Female ; Adult ; Vacuolar Proton-Translocating ATPases/genetics ; Phenotype ; Middle Aged ; Genes, Dominant |
| مستخلص: | Context: 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. Case Description: 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. Conclusion: 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. (© The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.) |
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| معلومات مُعتمدة: | P30 AR072581 United States AR NIAMS NIH HHS; UL1TR002529 United States TR NCATS NIH HHS; UL1 TR002529 United States TR NCATS NIH HHS; Musculoskeletal Health Clinical Research Cores; Valley of Indianapolis; R01AR077869 United States AR NIAMS NIH HHS; United States NH NIH HHS; The Indiana Center; R01 AR077869 United States AR NIAMS NIH HHS; The Indiana Clinical and Translational Sciences Institute; Ancient Accepted Scottish Rite |
| فهرسة مساهمة: | Keywords: TCIRG1; autosomal dominant osteopetrosis; missense; variant |
| المشرفين على المادة: | 0 (TCIRG1 protein, human) EC 3.6.1.- (Vacuolar Proton-Translocating ATPases) |
| تواريخ الأحداث: | Date Created: 20240123 Date Completed: 20240616 Latest Revision: 20240701 |
| رمز التحديث: | 20240701 |
| مُعرف محوري في PubMed: | PMC11180502 |
| DOI: | 10.1210/clinem/dgae040 |
| PMID: | 38261998 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1945-7197 |
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| DOI: | 10.1210/clinem/dgae040 |