Song XL, Peng LY, Wang DW, Wang H. Autosomal dominant osteopetrosis type II resulting from a de novo mutation in the CLCN7 gene: A case report. World J Clin Cases 2022; 10(20): 6936-6943 [PMID: 36051116 DOI: 10.12998/wjcc.v10.i20.6936]
Corresponding Author of This Article
Hong Wang, PhD, Genetic Diagnostic Centre, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei Province, China. alextowh@163.com.
Research Domain of This Article
Genetics & Heredity
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. Jul 16, 2022; 10(20): 6936-6943 Published online Jul 16, 2022. doi: 10.12998/wjcc.v10.i20.6936
Autosomal dominant osteopetrosis type II resulting from a de novo mutation in the CLCN7 gene: A case report
Xiu-Li Song, Li-Yuan Peng, Dao-Wen Wang, Hong Wang
Xiu-Li Song, Hong Wang, Genetic Diagnostic Centre, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei Province, China
Li-Yuan Peng, Dao-Wen Wang, Division of Cardiology, Department of Internal Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei Province, China
Author contributions: Song XL and Peng LY reviewed the literature and drafted the manuscript; Song XL and Wang H performed the whole-exome sequencing; Wang DW and Wang H were responsible for the revision of the manuscript for important intellectual content; all authors issued final approval for the version to be submitted.
Informed consent statement: Written informed consent was obtained from the patient’s legal guardian(s) for publication of this case report and any accompanying images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
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: Hong Wang, PhD, Genetic Diagnostic Centre, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei Province, China. alextowh@163.com.
Received: September 15, 2021 Peer-review started: September 15, 2021 First decision: November 17, 2021 Revised: December 1, 2021 Accepted: May 28, 2022 Article in press: May 28, 2022 Published online: July 16, 2022 Processing time: 292 Days and 9.8 Hours
Abstract
BACKGROUND
Osteopetrosis is a family of extremely rare diseases caused by failure of osteoclasts and impaired bone resorption. Among them, autosomal dominant osteopetrosis type II (ADO II), related to the chloride channel 7 (CLCN7) gene, is the most frequent form of osteopetrosis. In this study, we report a de novo mutation of CLCN7 in a patient without the family history of ADO II.
CASE SUMMARY
A 5-year-old Chinese boy with ADO II was found to have a de novo mutation in the CLCN7 gene [c.746C>T (p.P249L)]. Typical clinical manifestations, including thickening of the cortex of spinal bones and long bones, non-traumatic fracture of the femoral neck, and femoral head necrosis, were found in this patient. The patient is the first reported case of ADO II with the missense mutation c.746C>T (p.P249L) of the CLCN7 gene reported in China. We also review the available literature on ADO II-related CLCN7 mutations, including baseline patient clinical features, special clinical significance, and common mutations.
CONCLUSION
Our report will enrich the understanding of mutations in ADO II patients. The possibility of a de novo mutation should be considered in individuals who have no family history of osteopetrosis.
Core Tip: Osteopetrosis is a family of extremely rare diseases caused by failure of osteoclast and impaired bone resorption. The 5-year-old Chinese boy presented here is the first reported case of autosomal dominant osteopetrosis type II (ADO II) with the missense mutation c.746C>T (p.P249L) of the chloride channel 7 (CLCN7) gene in China. CLCN7 mutations can be due to de novo variants or due to inherited variants. The possibility of a de novo mutation should be considered in individuals who have no osteopetrosis family history. Our study systematically reviews the mutations of CLCN7 in ADO II, thus expanding the thoughts of diagnosis and treatment of osteopetrosis.
