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Megacystis-microcolon-intestinal hypoperistalsis syndrome caused by MYH11 elongating mutation : a case report and literatures review
Received date: 2024-03-26
Online published: 2024-09-04
Objective To report the clinical characteristics and genetic variant of a patient with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) and to investigate the genotypic-phenotypic correlation through literatures review. Methods The clinical data of a MMIHS child who came to our hospital in October 2023 due to "repeated abdominal distension and vomiting for more than 3 years" were analyzed. Peripheral blood samples were collected from the patient, his parents and his older sister, and the pathogenic mutation was screened by Trio-WES and Sanger sequencing. Relevant literature was summarized and analyzed. Results The patient, a 15-year-old boy, presented with recurrent episodes of abdominal distension, vomiting, and abdominal pain. Abdominal X-ray and upper gastrointestinal contrast study indicated intestinal obstruction. The condition stabilized after treatment with enema, anti-infection and intravenous nutritional support. Genetic testing revealed a heterozygous mutation in the MYH11 gene, identified as c.5819delC (p.Pro1940Hisfs*91), which resulted in the extension of the C-end of the myosin heavy chain and was not detected by either parent or sister. A total of 7 articles related to MYH11 gene mutation were included in the literature review. Mutation types included missense mutations, frameshift mutations, and chromosomal microdeletion. Gender was undetermined in 2 out of 20 patients due to early termination of pregnancy. Among the remaining patients, the male-to-female ratio was 2:1. Genotypic-phenotypic correlation analysis found that 15 patients with dominant heterozygous protein‐elongating MYH11 variants were aged 9 (0-28) years at onset, and no deaths were reported. Five patients with recessive loss-of-function mutations had an onset age of less than 1 year, with 4 deaths (80%). Conclusion This MMIHS patient carries the MYH11 gene c.5819delC (p. Pro1940Hisfs*91) mutation. Compared with patients with MYH11 gene mutation recessive inheritance, those with dominant MYH11 mutations tend to have a later onset, milder clinical manifestations, and a higher survival rate.
Jie ZHOU , Keqiang LIU , Jinling WANG , Ying WANG . Megacystis-microcolon-intestinal hypoperistalsis syndrome caused by MYH11 elongating mutation : a case report and literatures review[J]. Journal of Clinical Pediatrics, 2024 , 42(9) : 798 -804 . DOI: 10.12372/jcp.2024.24e0263
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