만성 가성 장폐색 환자(CIPO) 에서 ACTG2 유전자의 novel deletion mutation 발견
A novel deletion mutation of ACTG2 gene identified in a patient with chronic intestinal pseudo-obstruction (CIPO)
Abstract
Chronic intestinal pseudo-obstruction (CIPO) is characterized by impaired gastrointestinal movement resulting in abdominal pain, distension, malabsorption, and even death The etiology of chronic intestinal pseudo-obstruction (CIPO) varies from primary causes, such as visceral myopathy and neuropathy, to secondary causes, such as toxins, infections, diabetes, and connective tissue diseases. Recent studies have revealed that variants in the ACTG2 gene, encoding smooth muscle actin gamma-2, are associated with visceral myopathy with variable involvement of the bladder and intestine. ACTG2-related disorder affecting the gastrointestinal tract involves intestinal malrotation, neonatal manifestations of microcolon, megacystic microcolon intestinal hypoperistalsis syndrome (MMIHS), and CIPO Clinical exome sequencing was performed for confirmative diagnosis of CIPO in an 11 years old female patient who has been suffered from recurrent intestinal pseudo-obstruction for several years. A novel deletion ATCG2 variant (del exons 8–9) was identified and the results was consistent with the diagnosis of visceral myopathy, despite all previous reports of ACTG2 pathogenic variants being missense variants.