Publication Name	World Journal of Clinical Cases
Manuscript ID	74354
Country	China

Received	2021-12-21 13:33
Peer-Review Started	2021-12-21 13:35
To Make the First Decision
Return for Revision	2022-02-08 03:31
Revised	2022-02-21 15:47
Second Decision	2022-05-30 02:49
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief	2022-06-03 21:19
Articles in Press	2022-06-03 21:19
Publication Fee Transferred
Edit the Manuscript by Language Editor	2022-05-03 00:24
Typeset the Manuscript	2022-07-03 08:47
Publish the Manuscript Online	2022-07-11 08:36

ISSN	2307-8960 (online)
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Category	Pediatrics
Manuscript Type	Case Report
Article Title	Novel frameshift mutation in the AHDC1 gene in a Chinese global developmental delay patient: A case report
Manuscript Source	Unsolicited Manuscript
All Author List	Shuang-Zhu Lin, Hong-Yan Xie, Yan-Lai Qu, Wen Gao, Wan-Qi Wang, Jia-Yi Li, Xiao-Chun Feng and Chun-Quan Jin
ORCID	Author(s) ORCID Number Shuang-Zhu Lin http://orcid.org/0000-0001-5333-2138 Hong-Yan Xie http://orcid.org/0000-0002-4116-5173 Yan-Lai Qu http://orcid.org/0000-0001-8039-5345 Wen Gao http://orcid.org/0000-0001-9230-368X Wan-Qi Wang http://orcid.org/0000-0002-8247-7616 Jia-Yi Li http://orcid.org/0000-0002-7729-4479 Xiao-Chun Feng http://orcid.org/0000-0001-5780-2811 Chun-Quan Jin http://orcid.org/0000-0002-6082-6467
Funding Agency and Grant Number
Corresponding Author	Chun-Quan Jin, MD, Professor, Diagnosis and Treatment Center for Children, The First Affiliated Hospital to Changchun University of Chinese Medicine, No. 1478 Gongnong Road, Chaoyang District, Changchun 130021, Jilin Province, China. jinchunquan@126.com
Key Words	Xia–Gibbs syndrome; AT-Hook DNA-binding motif-containing protein 1; Children; Global developmental delay; Case report
Core Tip	We report a 6-mo-old girl with Xia–Gibbs syndrome (XGS). The main clinical manifestations were global developmental delay, hypotonia, and other mild dysmorphic features. DNA sequencing showed that there was a novel frameshift mutation of c.1155dupG (p.Arg386Alafs*3) in the AT-Hook DNA-binding motif-containing protein 1 (AHDC1) gene. This study extends the mutation spectrum of the AHDC1 gene, and provides a molecular basis for the etiological diagnosis of XGS and genetic consultation for the family.
Publish Date	2022-07-11 08:36
Citation	Lin SZ, Xie HY, Qu YL, Gao W, Wang WQ, Li JY, Feng XC, Jin CQ. Novel frameshift mutation in the AHDC1 gene in a Chinese global developmental delay patient: A case report. World J Clin Cases 2022; 10(21): 7517-7522
URL	https://www.wjgnet.com/2307-8960/full/v10/i21/7517.htm
DOI	https://dx.doi.org/10.12998/wjcc.v10.i21.7517

Full Article (PDF)	WJCC-10-7517.pdf
Full Article (Word)	WJCC-10-7517.docx
CARE Checklist–2016	74354-CARE-Checklist–2016-revision.pdf
Manuscript File	74354_Auto_Edited-FilipodiaCL-CKL-LS.docx
Answering Reviewers	74354-Answering reviewers.pdf
Audio Core Tip	74354-Audio core tip.mp3
Conflict-of-Interest Disclosure Form	74354-Conflict-of-interest statement.pdf
Copyright License Agreement	74354-Copyright license agreement.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s)	74354-Grant application form(s).pdf
Signed Consent for Treatment Form(s) or Document(s)	74354-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate	74354-Language certificate.pdf
Peer-review Report	74354-Peer-review(s).pdf
Scientific Misconduct Check	74354-Bing-Chang KL-2.png
Scientific Editor Work List	74354-Scientific editor work list.pdf
CrossCheck Report	74354-CrossCheck report.pdf