Pediatric intestinal pseudo-obstruction (PIPO) is a serious gastrointestinal disease that causes failure to grow, malnutrition, and long-term parenteral feeding dependency in children. Variants of enteric smooth muscle actin-2 (ACTG2) have been linked to the aetiology of PIPO. The purpose of this study was to see if there were any ACTG2 variations in Chinese PIPO patients. Full-exome sequencing was done on 39 recruited patients’ samples, whereas whole ACTG2 Sanger sequencing was performed on two patients’ samples. The number of pathogenic variants and genotypes associated with ACTG2 variations in the Chinese population were determined by reviewing published data. A total of 21 Chinese probands were discovered to have heterozygous missense ACTG2 mutations, 20 of which were de novo. Fifteen of the probands carried p.Arg257 variations, whereas the other two had c.533G>A and c.443G>T variants. The following new variations were found in four probands: c.337C>T, c.588G>C, c.734A>G, and c.553G>T.
Variations altering codon 257 of the ACTG2 protein sequence were found in both Chinese and Caucasian PIPO patients, but p.Arg178 variants were found in fewer Chinese patients than Caucasian patients. The four new ACTG2 variants were also discovered to be linked to Chinese PIPO.
