Publication Name	World Journal of Clinical Cases
Manuscript ID	70809
Country	China

Received	2021-09-15 15:31
Peer-Review Started	2021-09-15 15:33
To Make the First Decision
Return for Revision	2021-11-17 08:43
Revised	2021-12-01 02:19
Second Decision	2022-05-23 03:30
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief	2022-05-28 06:55
Articles in Press	2022-05-28 06:55
Publication Fee Transferred
Edit the Manuscript by Language Editor	2022-05-19 11:16
Typeset the Manuscript	2022-06-08 12:29
Publish the Manuscript Online	2022-07-05 01:22

ISSN	2307-8960 (online)
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Category	Genetics & Heredity
Manuscript Type	Case Report
Article Title	Autosomal dominant osteopetrosis type II resulting from a de novo mutation in the CLCN7 gene: A case report
Manuscript Source	Unsolicited Manuscript
All Author List	Xiu-Li Song, Li-Yuan Peng, Dao-Wen Wang and Hong Wang
ORCID	Author(s) ORCID Number Xiu-Li Song http://orcid.org/0000-0001-9681-8787 Li-Yuan Peng http://orcid.org/0000-0002-0813-1449 Dao-Wen Wang http://orcid.org/0000-0002-9774-3980 Hong Wang http://orcid.org/0000-0003-0320-9160
Funding Agency and Grant Number
Corresponding Author	Hong Wang, Genetic Diagnostic Centre, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 40030, Hubei Province, China. alextowh@163.com
Key Words	Osteopetrosis; Chloride channel 7 gene; Autosomal dominant osteopetrosis type Ⅱ; Whole exome sequencing; Case report
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 is the first reported case of autosomal dominant osteopetrosis type II (ADO II) with missense mutation c.746C>T (p.P249L) of chloride channel 7 (CLCN7) gene reported in China. CLCN7 mutation can be due to de novo variants or due to inherited variants. The possibility of de novo mutation should be considered in individuals who have no osteopetrosis family history. Our study systematically reviewed the mutations of CLCN7 in ADO II, expanded the thoughts of diagnosis and treatment of osteopetrosis.
Publish Date	2022-07-05 01:22
Citation	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
URL	https://www.wjgnet.com/2307-8960/full/v10/i20/6936.htm
DOI	https://dx.doi.org/10.12998/wjcc.v10.i20.6936

Full Article (PDF)	WJCC-10-6936.pdf
Full Article (Word)	WJCC-10-6936.docx
Manuscript File	70809_Auto_Edited-YXX-Wang TQ-LS.docx
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Audio Core Tip	70809-Audio core tip.m4a
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Supplementary Material	70809-Supplementary material.pdf
Peer-review Report	70809-Peer-review(s).pdf
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