De novo ACTG2 Mutation Identified by Whole Exome Sequencing in a Patient With Allied Hirschsprung’s Disease

Abstract

Allied Hirschsprung’s disease is an intractable disease characterized by the functional obstruction of the intestine. In infants, it is difficult to diagnose and classify it by radiographic contrast study and histological examination. Here, we report the case of a 12-year-old Japanese boy afflicted with megacystis and recurrent intestinal obstructions from 2 months of age, who was diagnosed as having chronic idiopathic intestinal pseudo-obstruction. We performed whole exome sequencing, successfully identifying a de novo ACTG2 missense mutation (c.769C>T, p.(Arg257Cys)). While 53 pedigrees with ACTG2 mutations have been reported so far, this is the first case with an ACTG2 mutation in Japan. It is expected that noninvasive genetic analysis can be applied to clinical practice for the diagnosis of allied Hirschsprung’s disease.