Journal of Pediatric Gastroenterology and Nutrition

Original Article: Gastroenterology

Variants in the Enteric Smooth Muscle Actin γ-2 Cause Pediatric Intestinal Pseudo-obstruction in Chinese Patients

Zhiliang Wei

Division of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Department of Pediatric Surgery, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Shanghai Institute of Pediatric Research, Shanghai, China

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Lina Lu,

Lina Lu

Division of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Youjie Zheng,

Youjie Zheng

Department of Pediatric Surgery, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Shanghai Institute of Pediatric Research, Shanghai, China

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Weihui Yan,

Weihui Yan

Division of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai, China, Shanghai, China

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Yijng Tao,

Yijng Tao

Division of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Yongtao Xiao,

Yongtao Xiao

Shanghai Institute of Pediatric Research, Shanghai, China

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Wei Cai,

Corresponding Author

Wei Cai

[email protected]

Department of Pediatric Surgery, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Shanghai Institute of Pediatric Research, Shanghai, China

Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai, China, Shanghai, China

Address correspondence and reprint requests to Wei Cai, Department of Pediatric Surgery, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China; Shanghai Institute of Pediatric Research, Shanghai, China; Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai, China (e-mail: [email protected])and Ying Wang, Division of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China; Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai, China (e-mail:[email protected]).Search for more papers by this author

Ying Wang,

Corresponding Author

Ying Wang

[email protected]

Division of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai, China, Shanghai, China

Zhiliang Wei,

Zhiliang Wei

Division of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Department of Pediatric Surgery, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Shanghai Institute of Pediatric Research, Shanghai, China

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Lina Lu,

Lina Lu

Division of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Youjie Zheng,

Youjie Zheng

Department of Pediatric Surgery, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Shanghai Institute of Pediatric Research, Shanghai, China

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Weihui Yan,

Weihui Yan

Division of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai, China, Shanghai, China

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Yijng Tao,

Yijng Tao

Division of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Yongtao Xiao,

Yongtao Xiao

Shanghai Institute of Pediatric Research, Shanghai, China

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Wei Cai,

Corresponding Author

Wei Cai

[email protected]

Department of Pediatric Surgery, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Shanghai Institute of Pediatric Research, Shanghai, China

Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai, China, Shanghai, China

Ying Wang,

Corresponding Author

Ying Wang

[email protected]

Division of Pediatric Gastroenterology and Nutrition, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai, China, Shanghai, China

First published: 17 August 2020

https://doi.org/10.1097/MPG.0000000000002897

Citations: 9

Supplemental digital content is available for this article. Direct URL citations appear in the printed text, and links to the digital files are provided in the HTML text of this article on the journal's Web site (www.jpgn.org).

Drs Zhiliang Wei and Lina Lu contributed equally to this work.

Funding: This work was supported by National Natural Science Foundation of China (81974066, 81630039), Foundation of Shanghai Municipal Health Commission (Key weak discipline construction project, 2019ZB0101), Foundation of Shanghai Municipal Health Commission (shslczdzk05702), Foundation of Science and Technology Commission of Shanghai Municipality (19495810500).

The authors report no conflicts of interest.

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ABSTRACT

Objectives:

Pediatric intestinal pseudo-obstruction (PIPO) is a severe gastrointestinal disorder occurring in children, leading to failure to thrive, malnutrition, and long-term parenteral nutrition dependence. Enteric smooth muscle actin γ-2 (ACTG2) variants have been reported to be related to the pathogenesis of PIPO. This study aimed to determine the presence of ACTG2 variants in Chinese PIPO patients.

Methods:

Whole-exome sequencing was performed using samples from 39 recruited patients, whereas whole ACTG2 Sanger sequencing was performed using samples from 2 patients. Published data was reviewed to determine the number of pathogenic variants and the genotype related to ACTG2 variants in the Chinese population.

Results:

A total of 21 Chinese probands were found to carry heterozygous missense variants of ACTG2, among which 20 were de novo. Fifteen probands had p.Arg257 variants (c.770G>A and c.769C>T), and the other 2 probands had c.533G>A (p.Arg178His) and c.443G>T (p.Arg148Leu) variants. Four probands had novel variants c.337C>T (p.Pro113Ser), c.588G>C (p.Glu196Asp), c.734A>G (p.Asp245Gly), and c.553G>T (p.Asp185Tyr).

Conclusions:

Variants affecting codon 257 of ACTG2 protein sequence appeared to be frequent in both Chinese and Caucasian PIPO patients, whereas p.Arg178 variants were less common in Chinese patients compared with Caucasian patients. The 4 novel variants in ACTG2 were also found to be related to Chinese PIPO.

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Volume72, Issue1

January 2021

Pages 36-42

Variants in the Enteric Smooth Muscle Actin γ-2 Cause Pediatric Intestinal Pseudo-obstruction in Chinese Patients

ABSTRACT

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Results:

Conclusions:

REFERENCES

Citing Literature

References

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Variants in the Enteric Smooth Muscle Actin γ-2 Cause Pediatric Intestinal Pseudo-obstruction in Chinese Patients

ABSTRACT

Objectives:

Methods:

Results:

Conclusions:

REFERENCES

Citing Literature

References

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