Publication Name	World Journal of Clinical Cases
Manuscript ID	79272
Country	China

Category	Genetics & 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; 11(11): 2452-2456

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 Executive 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	2023-03-26 16:26

ISSN	2307-8960 (online)
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