López-Muñoz E, Hernández-Zarco A, Polanco-Ortiz A, et al. Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): report of a case with prolonged survival and literature review. J Pediatr Urol. 2013;9:e12–8.
Nakamura H, O’Donnell AM, Puri P. Consanguinity and its relevance for the incidence of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): systematic review. Pediatr Surg Int. 2019;35:175–80.
Andrés AM, Miguel M, De la Torre C, et al. Pseudoobstrucción intestinal idiopática crónica y síndrome de berdon: todavía un desafío diagnóstico y terapéutico para el cirujano pediátrico [Chronic idiopathic intestinal pseudo obstruction and Berdon syndrome: still a diagnostic and therapeutic challenge for the pediatric surgeon]. Cir Pediatr. 2010;23:215–21.
Ambartsumyan L. Megacystis-microcolon-intestinal hypoperistalsis syndrome overview. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington; 2019. p. 1993–2024.
Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, et al. A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. Eur J Hum Genet. 2015;23:1266–8.
Article CAS PubMed Google Scholar
Thorson W, Diaz-Horta O, Foster J 2nd, et al. De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. Hum Genet. 2014;133:737–42.
Article CAS PubMed Google Scholar
Wangler MF, Gonzaga-Jauregui C, Gambin T, et al. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014;10: e1004258.
Article PubMed PubMed Central Google Scholar
Raza F, Jehangir M, Nazir R, et al. Tension pneumoperitoneum: a rare presentation of megacystis microcolon intestinal hypoperistalsis syndrome. J Ayub Med Coll Abbottabad. 2019;31:136–7.
Kocoshis SA, Goldschmidt ML, Nathan JD, et al. Esophageal dysmotility: an intrinsic feature of megacystis, microcolon, hypoperistalsis syndrome (MMIHS). J Pediatr Surg. 2019;54:1303–7.
McClelland C, Walsh RD, Chikwava KR, et al. Congenital mydriasis associated with megacystis microcolon intestinal hypoperistalsis syndrome. J Neuroophthalmol. 2013;33:271–5.
Jain VK, Garge S, Singh S, et al. Megacystis microcolon intestinal hypoperistalsis syndrome complicated by perforation. Afr J Paediatr Surg. 2011;8:70–1.
Hugar LA, Chaudhry R, Fuller TW, et al. Urologic phenotype and patterns of care in patients with megacystis microcolon intestinal hypoperistalsis syndrome presenting to a major pediatric transplantation center. Urology. 2018;119:127–32.
Rosenblatt J, Dreux S, Spaggiari E, et al. Prenatal diagnosis of megacystis microcolon intestinal hypoperistalsis syndrome by biochemical analysis of fetal urine. Prenat Diagn. 2018. https://doi.org/10.1002/pd.5283.
Shono T, Suita S, Taguchi T, et al. Manometric evaluation of gastrointestinal motility in a case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). Eur J Pediatr Surg. 1992;2:52–5.
Article CAS PubMed Google Scholar
Young ID, McKeever PA, Brown LA, et al. Prenatal diagnosis of the megacystis-microcolon-intestinal hypoperistalsis syndrome. J Med Genet. 1989;26:403–6.
Article CAS PubMed PubMed Central Google Scholar
Muller F, Dreux S, Vaast P, et al. Prenatal diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome: contribution of amniotic fluid digestive enzyme assay and fetal urinalysis. Prenat Diagn. 2005;25:203–9.
Machado L, Matias A, Rodrigues M, et al. Fetal megacystis as a prenatal challenge: megacystis-microcolon-intestinal hypoperistalsis syndrome in a male fetus. Ultrasound Obstet Gynecol. 2013;41:345–7.
Article CAS PubMed Google Scholar
Redman JF, Jimenez JF, Golladay ES, et al. Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of the literature. J Urol. 1984;131:981–3.
Article CAS PubMed Google Scholar
Talisetti A, Longacre T, Pai RK, et al. Diversion colitis in a 19-year-old female with megacystis-microcolon-intestinal hypoperistalsis syndrome. Dig Dis Sci. 2009;54:2338–40.
Trebicka J, Biecker E, Gruenhage F, et al. Diagnosis of megacystis-microcolon intestinal hypoperistalsis syndrome with aplastic desmosis in adulthood: a case report. Eur J Gastroenterol Hepatol. 2008;20:353–5.
Winter RM, Knowles SA. Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance. J Med Genet. 1986;23:360–2.
Article CAS PubMed PubMed Central Google Scholar
Penman DG, Lilford RJ. The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosomal recessive condition. J Med Genet. 1989;26:66–7.
Article CAS PubMed PubMed Central Google Scholar
Cai H, Xiao Y, Chen S, et al. Heterozygous Actg2R257C mice mimic the phenotype of megacystis microcolon intestinal hypoperistalsis syndrome. Neurogastroenterol Motil. 2023;35: e14472.
Article CAS PubMed Google Scholar
Ignasiak-Budzyńska K, Danko M, Książyk J. Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): series of 4 cases caused by mutation of ACTG2 (actin gamma 2, smooth muscle) gene. Case Rep Gastrointest Med. 2021;2021:6612983.
PubMed PubMed Central Google Scholar
Xiong X, Li J, Liu C, et al. Visceral myopathy diagnosed by a de novo ACTG2 mutation in a patient with chronic intestinal pseudo-obstruction-a case report. Transl Pediatr. 2021;10:679–85.
Article PubMed PubMed Central Google Scholar
Matera I, Bordo D, Di Duca M, et al. Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction. Clin Genet. 2021;99:430–6.
Article CAS PubMed Google Scholar
Ravenscroft G, Pannell S, O’Grady G, et al. Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction. Neurogastroenterol Motil. 2018;30: e13371.
Article CAS PubMed Google Scholar
Korğalı EÜ, Yavuz A, Şimşek CEÇ, et al. Megacystis microcolon intestinal hypoperistalsis syndrome in which a different de novo Actg2 gene mutation was detected: a case report. Fetal Pediatr Pathol. 2018;37:109–16.
Whittington JR, Poole AT, Dutta EH, et al. A novel mutation in ACTG2 gene in mother with chronic intestinal pseudoobstruction and fetus with megacystis microcolon intestinal hypoperistalsis syndrome. Case Rep Genet. 2017;2017:9146507.
PubMed PubMed Central Google Scholar
Matera I, Rusmini M, Guo Y, et al. Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. Eur J Hum Genet. 2016;24:1211–5.
Article CAS PubMed PubMed Central Google Scholar
Tuzovic L, Tang S, Miller RS, et al. New insights into the genetics of fetal megacystis: ACTG2 mutations, encoding γ-2 smooth muscle actin in megacystis microcolon intestinal hypoperistalsis syndrome (Berdon syndrome). Fetal Diagn Ther. 2015;38:296–306.
Billon C, Molin A, Poirsier C, et al. Fetal megacystis-microcolon: genetic mutational spectrum and identification of PDCL3 as a novel candidate gene. Clin Genet. 2020;98:261–73.
Article CAS PubMed Google Scholar
Liu K, Lu L, Chen S, et al. Loss-of-function variants within LMOD1 actin-binding site 2 cause pediatric intestinal pseudo-obstruction by impairing protein stability and actin nucleation. FASEB J. 2022;36: e22194.
Wang Q, Zhang J, Wang H, et al. Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family. J Hum Genet. 2019;64:1067–73.
Article CAS PubMed PubMed Central Google Scholar
Kloth K, Renner S, Burmester G, et al. 16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome. Clin Genet. 2019;96:85–90.
Article CAS PubMed Google Scholar
Moreno CA, Sobreira N, Pugh E, et al. Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome. Eur J Hum Genet. 2018;26:669–75.
Article CAS PubMed PubMed Central Google Scholar
Kandler JL, Sklirou E, Woerner A, et al. Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome. Mol Genet Genomic Med. 2020;8: e1516.
Article CAS PubMed PubMed Central Google Scholar
Halim D, Brosens E, Muller F, et al. Loss-of-function variants in MYLK cause recessive megacystis microcolon intestinal hypoperistalsis syndrome. Am J Hum Genet. 2017;101:123–9.
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