New insights into the pathogenic variation landscape in pediatric gastroenterology diseases

doi:10.3748/wjg.120428

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World Journal of Gastroenterology

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1007-9327

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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Copyright: ©Author(s) 2026. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution-NonCommercial (CC BY-NC 4.0) license. No commercial re-use. See permissions. Published by Baishideng Publishing Group Inc.

World J Gastroenterol. Oct 21, 2026; 32(39): 120428
Published online Oct 21, 2026. doi: 10.3748/wjg.120428

Table 3 Genetic mutation of MYO5B in children with chronic diarrhea of different ethnic groups

	UAE[3]	Chinese[4]	Indian[6]	Turk[7]
MYO5B	Homozygous c.1966C>T (p.Arg656Cys¹), homozygous c.82del p.(Thr28Profs47) (frameshift mutation²)	Heterozygous c.1306G>T (p.Val436Phe) plus heterozygous c.3190C>T (p.Arg1064) (nonsense mutation³)	Heterozygous c.1952C>G (p.Thr651Arg⁴)	Homozygous c.2014A>T (p.Lys672, nonsense mutation⁵), homozygous c.1323-2A>G (canonical splice-site destroyed mutation⁵)

¹Received a diagnosis of tufting enteropathy.

²Had microvillous inclusion disease (a life-threatening condition).

³Had severe symptoms (stools were watery and evacuated more than 10 times per day).

⁴Microvillous inclusion disease (variant of uncertain significance).

⁵Microvillous inclusion disease.

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Citation: Chang FC, Tsai CY, Koh KJ, Huang CS. New insights into the pathogenic variation landscape in pediatric gastroenterology diseases. World J Gastroenterol 2026; 32(39): 120428
URL: https://www.wjgnet.com/1007-9327/full/v32/i39/120428.htm
DOI: https://dx.doi.org/10.3748/wjg.120428

Chang FC, Tsai CY, Koh KJ, Huang CS. New insights into the pathogenic variation landscape in pediatric gastroenterology diseases. World J Gastroenterol 2026; 32(39): 120428 [DOI: 10.3748/wjg.120428]

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