{"doi":"10.20517/jtgg.2021.63","title":"Potential therapeutic response in a severe case of autosomal dominant osteopetrosis type I","abstract":"The low-density lipoprotein receptor-related protein 5 gene (LRP5), which encodes a coreceptor within the canonical Wnt signaling pathway, plays a crucial role in bone mass regulation and has been associated with several bone disorders. Autosomal dominant osteopetrosis type I (ADO type I, OMIM 607634) is a rare disease caused by heterozygous, gain-of-function mutations in LRP5. Here we describe a 44-year-old female who presented with thickened calvarium, elevated bone density, torus palatinus, mandibular exostoses, enlarged mandible, and disabling headaches and bone pain. Exome sequencing revealed a previously reported heterozygous missense variant in the LRP5 gene (p.A242T). Post-diagnosis cranial vault volume measurement by computed tomography 3D reconstruction demonstrated decreasing intracranial volume over time. Off-label use of leuprolide acetate was associated with apparent stabilization of skull mineralization. This report documents a severe example of ADO type I and provides anecdotal evidence of the utility of therapy in need of formal evaluation.","journal":"Journal of Translational Genetics and Genomics","year":2022,"id":295769,"datarank":0.10397207708399181,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"self_citation_contribution":0.10397207708399181,"citation_network_contribution":0.0,"self_endowment_contribution":0.10397207708399181,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9595,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":11375,"name":"Elizabeth A. Burke","orcid":"0000-0002-0801-666X","position":1,"is_corresponding":false},{"id":362136,"name":"David R. Adams","orcid":"0000-0002-6660-1242","position":2,"is_corresponding":false},{"id":979242,"name":"Colleen A. Evans","orcid":"0000-0001-9566-2426","position":3,"is_corresponding":false},{"id":488068,"name":"Dorothy Bulas","orcid":"0000-0001-5003-2105","position":4,"is_corresponding":false},{"id":982462,"name":"Stuart Weinerman","orcid":null,"position":5,"is_corresponding":false},{"id":289372,"name":"Kristen S. Pan","orcid":"0000-0002-9559-0124","position":6,"is_corresponding":false},{"id":298517,"name":"Michael T. Collins","orcid":"0000-0003-3676-7644","position":7,"is_corresponding":false},{"id":70650,"name":"Thomas C. Markello","orcid":"0000-0002-2298-9759","position":8,"is_corresponding":false},{"id":243159,"name":"Gilbert Vézina","orcid":"0000-0002-1999-336X","position":9,"is_corresponding":false},{"id":70654,"name":"William A. Gahl","orcid":"0000-0002-2494-6752","position":10,"is_corresponding":false},{"id":260096,"name":"Camilo Toro","orcid":"0000-0002-3917-9031","position":11,"is_corresponding":false},{"id":982461,"name":"Syed Maisam Jafri","orcid":null,"position":0,"is_corresponding":true}],"reference_count":24,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-19T00:31:12.531553Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}