Publication Name	World Journal of Clinical Pediatrics
Manuscript ID	124722
DOI	10.5409/wjcp.124722
Country	Thailand

Category	Genetics & Heredity
Manuscript Type	Systematic Reviews
Article Title	Variant burden predicts glycogen storage disease type IV phenotype: A systematic review
Manuscript Source	Unsolicited Manuscript
All Author List	Pimchanok Kulsirichawaroj, Peerada Pongsakornkullachart, Watanawan Jaito, Theerapong Pho-Iam, Jantima Tanboon, Achara Sathienkijkanchai, Surachai Likasithwatakul, Oranee Sanmaneechai, Vorasuk Shotelersuk and Mongkol Chanvanichtrakool
Funding Agency and Grant Number	Funding Agency Grant Number Health Systems Research Institute HSRI 69-084
Corresponding Author	Mongkol Chanvanichtrakool, Assistant Professor, Division of Neurology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, No. 2 Wanglang Road, Bangkok Noi, Bangkok 10700, Thailand. mongkon.cha@hotmail.com
Key Words	Congenital neuromuscular disease; Genotype-based prognostication; Genotype-phenotype correlation; Glycogen branching enzyme; Glycogen storage disease type IV; Truncating variant
Core Tip	Glycogen storage disease type IV shows wide clinical variability, and genotype-phenotype correlations have been poorly defined. Combining 2 new congenital neuromuscular cases with a systematic review of 178 individuals, we show that the burden of truncating GBE1 variants is a key determinant of disease severity. Truncating-variant burden is therefore a specific but insensitive predictor, because the remaining congenital cases carry missense variants affecting catalytic-core residues. Affected siblings always shared the same phenotype. Assessing variant type together with variant position, rather than truncating-variant burden alone, offers a practical basis for prenatal and perinatal counseling.
Citation	Kulsirichawaroj P, Pongsakornkullachart P, Jaito W, Pho-Iam T, Tanboon J, Sathienkijkanchai A, Likasithwatakul S, Sanmaneechai O, Shotelersuk V, Chanvanichtrakool M. Variant burden predicts glycogen storage disease type IV phenotype: A systematic review. World J Clin Pediatr 2026; In press DOI: https://doi.org/10.5409/wjcp.124722
PDF	124722-in-press.pdf

Received	2026-06-23 05:59
Peer-Review Started	2026-06-23 06:00
First Decision by Editorial Office Director
Return for Revision	2026-08-06 03:52
Revised	2026-08-11 16:40
Publication Fee Transferred	2026-09-07 06:53
Second Decision by Editor	2026-11-02 02:19
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director	2026-11-02 03:12
Articles in Press	2026-11-02 03:12
Edit the Manuscript by Language Editor
Typeset the Manuscript

ISSN	2219-2808 (online)
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