Gong HP, Ren Y, Zha PP, Zhang WY, Zhang J, Zhang ZW, Wang C. Clinical and genetic diagnosis of autosomal dominant osteopetrosis type II in a Chinese family: A case report. World J Clin Cases 2023; 11(3): 700-708 [PMID: 36793634 DOI: 10.12998/wjcc.v11.i3.700]
Corresponding Author of This Article
Chun Wang, Doctor, PhD, Chief Doctor, Department of Endocrinology and Metabolism, Sichuan University West China Hospital, No. 37 Guoxue Lane, Chengdu 610041, Sichuan Province, China. snoopywc@163.com
Research Domain of This Article
Endocrinology & Metabolism
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Jan 26, 2023; 11(3): 700-708 Published online Jan 26, 2023. doi: 10.12998/wjcc.v11.i3.700
Clinical and genetic diagnosis of autosomal dominant osteopetrosis type II in a Chinese family: A case report
Hong-Ping Gong, Yan Ren, Pan-Pan Zha, Wen-Yan Zhang, Jin Zhang, Zhi-Wen Zhang, Chun Wang
Hong-Ping Gong, International Medical Center Ward, General Practice Medical Center, Sichuan University West China Hospital, Chengdu 610041, Sichuan Province, China
Hong-Ping Gong, Yan Ren, Pan-Pan Zha, Chun Wang, Department of Endocrinology and Metabolism, Sichuan University West China Hospital, Chengdu 610041, Sichuan Province, China
Wen-Yan Zhang, Department of Pathology, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
Jin Zhang, Zhi-Wen Zhang, Department of Endocrinology and Metabolism, The People’s Hospital of Leshan, Leshan 614003, Sichuan Province, China
Author contributions: Gong HP and Ren Y wrote the manuscript; Gong HP, Ren Y and Wang C revised the manuscript; Gong HP, Ren Y, Zha PP, Zhang J and Zhang ZW contributed to the collection of the clinical data; Zhang WY performed a histopathological review and pathological diagnosis of this case was performed independently; all authors contributed to and approved the final manuscript for publication.
Supported bythe Science and Technology Plan Program of Sichuan of China, No. 2018JY0608.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All authors declare that they have no conflict of interest to disclose.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Chun Wang, Doctor, PhD, Chief Doctor, Department of Endocrinology and Metabolism, Sichuan University West China Hospital, No. 37 Guoxue Lane, Chengdu 610041, Sichuan Province, China. snoopywc@163.com
Received: November 23, 2022 Peer-review started: November 23, 2022 First decision: December 13, 2022 Revised: December 23, 2022 Accepted: January 5, 2023 Article in press: January 5, 2023 Published online: January 26, 2023 Processing time: 64 Days and 3.4 Hours
Abstract
BACKGROUND
Osteopetrosis is a rare genetic disorder characterized by increased bone density due to defective bone resorption of osteoclasts. Approximately, 80% of autosomal dominant osteopetrosis type II (ADO-II) patients were usually affected by heterozygous dominant mutations in the chloride voltage-gated channel 7 (ClCN7) gene and present early-onset osteoarthritis or recurrent fractures. In this study, we report a case of persistent joint pain without bone injury or underlying history.
CASE SUMMARY
We report a 53-year-old female with joint pain who was accidentally diagnosed with ADO-II. The clinical diagnosis was based on increased bone density and typical radiographic features. Two heterozygous mutations in the ClCN7 and T-cell immune regulator 1 (TCIRG1) genes by whole exome sequencing were identified in the patient and her daughter. The missense mutation (c.857G>A) occurred in the CLCN7 gene p. R286Q, which is highly conserved across species. The TCIRG1 gene point mutation (c.714-20G>A) in intron 7 (near the splicing site of exon 7) had no effect on subsequent transcription.
CONCLUSION
This ADO-II case had a pathogenic CLCN7 mutation and late onset without the usual clinical symptoms. For the diagnosis and assessment of the prognosis for osteopetrosis, genetic analysis is advised.
Core Tip: Autosomal dominant osteopetrosis (ADO-II) is an autosomal dominant form of osteopetrosis. In ADO-II patients, the clinical spectrum ranges from nonsymptomatic to recurrent fractures, anemia, and a favorable prognosis. We reported a 53-year-old female patient with persistent joint pain, who was accidentally diagnosed with ADO-II at a later age. Her asymptomatic daughter was also diagnosed with ADO-II, as confirmed by whole exome sequencing.
