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

Zhiliang Wei1,2,3, Lina Lu1, Youjie Zheng2,3

  • 1Division of Pediatric Gastroenterology and Nutrition.

Journal of Pediatric Gastroenterology and Nutrition
|August 19, 2020
PubMed

Insights

Enteric smooth muscle actin γ-2 (ACTG2) variants are linked to pediatric intestinal pseudo-obstruction (PIPO). This study identified several ACTG2 variants, including novel ones, in Chinese PIPO patients, highlighting their role in the disease.

Area of Science:

  • Genetics
  • Gastroenterology
  • Pediatrics

Background:

  • Pediatric intestinal pseudo-obstruction (PIPO) is a severe condition causing growth failure and malnutrition.
  • Enteric smooth muscle actin γ-2 (ACTG2) gene variants are implicated in PIPO pathogenesis.

Purpose of the Study:

  • To investigate the presence and spectrum of ACTG2 variants in Chinese patients diagnosed with PIPO.

Main Methods:

  • Whole-exome sequencing was employed for 39 PIPO patients.
  • Sanger sequencing of the ACTG2 gene was performed for 2 additional patients.
  • A review of published data was conducted to assess variant frequency in the Chinese population.

Main Results:

  • Twenty-one Chinese PIPO probands harbored heterozygous ACTG2 missense variants, with 20 being de novo.
  • Frequent variants included p.Arg257 (c.770G>A and c.769C>T) and less common p.Arg178His and p.Arg148Leu.
  • Four novel ACTG2 variants (p.Pro113Ser, p.Glu196Asp, p.Asp245Gly, p.Asp185Tyr) were identified in Chinese PIPO patients.

Conclusions:

  • ACTG2 variants, particularly at codon 257, are common in Chinese PIPO patients, similar to Caucasian populations.
  • Specific variants like p.Arg178 showed different frequencies between Chinese and Caucasian PIPO patients.
  • The identified novel ACTG2 variants are associated with PIPO in the Chinese pediatric population.
Abstract

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