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Publication Name World Journal of Clinical Cases
Manuscript ID 79272
Country/Territory China
Category Genetics and Heredity
Manuscript Type Case Report
Article Title Aicardi-Goutières syndrome type 7 in a Chinese child: A case report
Manuscript Source Unsolicited Manuscript
All Author List Shuang-Zhu Lin, Jing-Jing Yang, Tian-Long Xie, Jia-Yi Li, Jia-Qi Ma, Si Wu, Na Wang and Yong-Ji Wang
Funding Agency and Grant Number
Corresponding Author Yong-Ji Wang, MD, Professor, Diagnosis and Treatment Center for Children, Affiliated Hospital of Changchun University of Chinese Medicine, No. 185, Shenzhen Street, Nanguan Economic and Technological Development Zone, Changchun 130021, Jilin Province, China. 18943188651@189.cn
Key Words Aicardi-Goutières syndrome type 7; IFIH1 gene; Children; Case report
Core Tip We report a 5-year-old girl with Aicardi-Goutières syndrome type 7. The clinical characteristics included postnatal height and weight retardation, delayed language development, brain atrophy, convulsions, and growth hormone deficiency. Whole exome test showed c.1093A>G (p.Lys365Glu) and heterozygous mutation in IFIH1 gene, and the mutation source was her father. This report provides a molecular basis for etiological diagnosis and treatment of the child, as well as for genetic counseling for the pedigree.
Citation Lin SZ, Yang JJ, Xie TL, Li JY, Ma JQ, Wu S, Wang N, Wang YJ. Aicardi-Goutières syndrome type 7 in a Chinese child: A case report. World J Clin Cases 2023; In press
Received
2022-08-13 05:24
Peer-Review Started
2022-08-13 05:26
To Make the First Decision
Return for Revision
2022-11-11 02:07
Revised
2023-02-22 15:58
Second Decision
2023-03-17 02:39
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2023-03-17 07:01
Articles in Press
2023-03-17 07:01
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
ISSN 2307-8960 (online)
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: http://creativecommons.org/Licenses/by-nc/4.0/
Copyright © The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
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Assistant Editor Assistant Editor
Science Editor Ze-Mao Gong
Reviewer Code 05811191
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Company Chief Editor Jin-Lei Wang
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