期刊
TRANSLATIONAL PEDIATRICS
卷 10, 期 3, 页码 679-685出版社
AME PUBL CO
DOI: 10.21037/tp-20-316
关键词
ACTG2; actin; chronic intestinal pseudo-obstruction; visceral myopathy; case report
类别
资金
- General Project of National Clinical Research Center for Child Health and Disorders, Chongqing Medical University Affiliated Children's Hospital [NCRC-2019-GP-12]
Visceral myopathy is a rare genetic disorder that primarily affects the digestive and renal systems. This study presents a case of pediatric intestinal pseudo-obstruction associated with a novel ACTG2 gene mutation that has not been previously described in patients with visceral myopathy.
Visceral myopathy is a rare genetic disorder that commonly affects the digestive and renal systems. Manifestations include a clinical spectrum covering chronic intestinal pseudo-obstruction (CIPO) and megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). The smooth muscle actin gamma-2 gene (ACTG2) is one of the most common disease-causing genes. Here, we present a case of pediatric intestinal pseudo-obstruction associated with a novel missense ACTG2 mutation, c.588G>C/p.E196D. His parents had no this mutation, which suggested the possibility of spontaneous mutation. Amino acid conservation analysis of gamma-2 actin showed replacement of glutamate at position 196 by aspartate. The patient suffered from recurrent episodes of abdominal bloating, undergone repeated gastrointestinal surgery, had feeding difficulties, and required long-term parenteral nutrition support. The patient had no other specific symptoms or underlying diseases. X-ray of the abdomen showed dilation of the intestine as well as an air-fluid pattern. The manifestations of biopsy were various. All biochemical tests were normal, and the possibility of secondary intestinal pseudo-obstruction was excluded. The mutation site of ACTG2 in the present study has not been previously described in patients with visceral myopathy, and thus, our study reveals a novel mutation of ACTG2-associated visceral myopathy in a patient with CIPO. This report can serve as a reference for future research and further expands the map of genetic variation for visceral myopathy.
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