Publication Name	World Journal of Clinical Cases
Manuscript ID	88220
Country	China

Received	2023-09-19 00:31
Peer-Review Started	2023-09-19 00:32
To Make the First Decision
Return for Revision	2023-11-20 07:49
Revised	2023-12-01 14:42
Second Decision	2023-12-22 02:45
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief	2023-12-22 06:46
Articles in Press	2023-12-22 06:46
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript	2023-12-27 06:24
Publish the Manuscript Online	2024-01-11 05:28

ISSN	2307-8960 (online)
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Category	Biochemical Research Methods
Manuscript Type	Case Report
Article Title	Mental retardation, seizures and language delay caused by new SETD1B mutations: Three case reports
Manuscript Source	Unsolicited Manuscript
All Author List	Le Ding, Li-Wan Wei, Tai-Song Li and Jing Chen
Funding Agency and Grant Number	Funding Agency Grant Number Key Health Science and Technology Development Project of Nanjing City, Jiangsu Province ZKX19038
Corresponding Author	Jing Chen, MD, Doctor, Institute of Neurology and Pediatrics, Children’s Hospital Affiliated to Nanjing Medical University, No. 72 Guangzhou Road, Gulou District, Nanjing 210000, Jiangsu Province, China. dr.chenj@njmu.edu.cn
Key Words	Neurodevelopmental disorder; Seizure; SETD1B gene; Whole-exome sequencing; New mutation; Case reports
Core Tip	This study identified three novel mutations in the SETD1B gene: c.5473C>T (p.Arg1825trp), c.4120C>T (p.Gln1374*, 593), c.14_15insC (p.His5Hisfs*33). The findings suggest that these mutations may result in overall developmental delays and intellectual disabilities, thereby broadening the known phenotypic spectrum of the SETD1B gene. Additionally, the study highlighted the potential pathological connection between SETD1B abnormalities and neurodevelopmental retardation associated with epilepsy.
Publish Date	2024-01-11 05:28
Citation	Ding L, Wei LW, Li TS, Chen J. Mental retardation, seizures and language delay caused by new SETD1B mutations: Three case reports. World J Clin Cases 2023; 12(2): 383-391
URL	https://www.wjgnet.com/2307-8960/full/v12/i2/383.htm
DOI	https://dx.doi.org/10.12998/wjcc.v12.i2.383

Full Article (PDF)	WJCC-12-383-with-cover.pdf
Full Article (Word)	WJCC-12-383.docx
CARE Checklist–2016	88220-CARE Checklist (2016).pdf
Manuscript File	88220_Auto_Edited-YJP.docx
Answering Reviewers	88220-Answering reviewers.pdf
Audio Core Tip	88220-Audio core tip.m4a
Conflict-of-Interest Disclosure Form	88220-Conflict-of-interest statement.pdf
Copyright License Agreement	88220-Copyright license agreement.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s)	88220-Grant application form(s).pdf
Signed Consent for Treatment Form(s) or Document(s)	88220-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate	88220-Language certificate.pdf
Peer-review Report	88220-Peer-review(s).pdf
Scientific Misconduct Check	88220-Bing-Wang JJ-2.png
Scientific Editor Work List	88220-Scientific editor work list.pdf