Publication Name	World Journal of Clinical Pediatrics
Manuscript ID	117629
Country	Thailand

Category	Pediatrics
Manuscript Type	Case Report
Article Title	Novel TMEM63A mutation associated with transient hypomyelination of infancy - lessons from a previously negative whole-exome sequencing case: Three case reports
Manuscript Source	Unsolicited Manuscript
All Author List	Mongkol Chanvanichtrakool, Pimchanok Kulsirichawaroj, Watanawan Jaito, Theerapong Pho-Iam, Wuttichart Kamolvisit and Surachai Likasitwattanakul
Funding Agency and Grant Number
Corresponding Author	Surachai Likasitwattanakul, Associate Professor, Division of Neurology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wanglang Road, Bangkok Noi, Bangkok 10700, Thailand. surachai.lik@mahidol.ac.th
Key Words	Incomplete penetrance; Hypomyelinating leukodystrophy type 19; Hypomyelinating leukodystrophy; TMEM63A; Transient hypomyelination; Case report
Core Tip	Practice-changing diagnostic lesson: In children with early-onset nystagmus, hypotonia, and developmental delay-including hypomyelination syndrome-should be considered. When whole-exome sequencing is nondiagnostic, the appearance of new affected relatives or evolving new phenotype should trigger reanalysis using broader, iteratively refined human phenotype ontology terms, integrated with the suspected inheritance pattern. This strategy improves variant interpretation, increases diagnostic yield, and can ultimately end the diagnostic odyssey.
Citation	Chanvanichtrakool M, Kulsirichawaroj P, Jaito W, Pho-Iam T, Kamolvisit W, Likasitwattanakul S. Novel TMEM63A mutation associated with transient hypomyelination of infancy - lessons from a previously negative whole-exome sequencing case: Three case reports. World J Clin Pediatr 2026; In press

Received	2025-12-12 00:24
Peer-Review Started	2025-12-12 00:24
First Decision by Editorial Office Director	2026-01-12 08:36
Return for Revision	2026-01-12 08:36
Revised	2026-01-25 19:42
Publication Fee Transferred	2026-01-26 13:40
Second Decision by Editor	2026-02-24 02:47
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director	2026-02-24 09:00
Articles in Press	2026-02-24 09:00
Edit the Manuscript by Language Editor
Typeset the Manuscript

ISSN	2219-2808 (online)
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