ArticleThe Journal of clinical endocrinology and metabolism2024
Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene.
Article in The Journal of clinical endocrinology and metabolism, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- HR-pQCT measures of bone in autosomal dominant osteopetrosis highly correlate with fractures and inversely correlate with bone resorption markers.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- Clinical and Molecular Characterization ofBiomedicines · 2026Review
- Fractures are highly correlated with bone density and inversely correlated with bone turnover markers in autosomal dominant osteopetrosis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- The orthopaedic management of osteopetrosis in paediatric populations: a narrative review of the literature.Frontiers in pediatrics · 2026Review
- Identifying rare variants in genes related to bone phenotypes in a cohort of postmenopausal women.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2025Article
- A novel frameshift variant leads to familial osteopetrosis with variable phenotypes in a Chinese Han consanguineous family.BMC medical genomics · 2025Article
- Osteopetrosis in the pediatric patient: what the radiologist needs to know.Pediatric radiology · 2024Review
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Authors and funding
10 authors.
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Abstract
contextAutosomal 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.
conclusionThis 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.
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