Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction

Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society
G RavenscroftNigel G Laing

Abstract

Primary chronic intestinal pseudo-obstruction (CIPO) is a rare, potentially life-threatening disorder characterized by severely impaired gastrointestinal motility. The objective of this study was to examine the contribution of ACTG2, LMOD1, MYH11, and MYLK mutations in an Australasian cohort of patients with a diagnosis of primary CIPO associated with visceral myopathy. Pediatric and adult patients with primary CIPO and suspected visceral myopathy were recruited from across Australia and New Zealand. Sanger sequencing of the genes encoding enteric gamma-actin (ACTG2) and smooth muscle leiomodin (LMOD1) was performed on DNA from patients, and their relatives, where available. MYH11 and MYLK were screened by next-generation sequencing. We identified heterozygous missense variants in ACTG2 in 7 of 17 families (~41%) diagnosed with CIPO and its associated conditions. We also identified a previously unpublished missense mutation (c.443C>T, p.Arg148Leu) in one family. One case presented with megacystis-microcolon-intestinal hypoperistalsis syndrome in utero with subsequent termination of pregnancy at 28 weeks' gestation. All of the substitutions identified occurred at arginine residues. No likely pathogenic variants in LMOD1, MYH11, ...Continue Reading

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Citations

Nov 1, 2018·Annual Review of Physiology·Sabine SchneiderRobert O Heuckeroth
May 14, 2020·International Journal of Molecular Sciences·Francine ParkerMichelle Peckham
Aug 19, 2020·Journal of Pediatric Gastroenterology and Nutrition·Zhiliang WeiYing Wang
Dec 29, 2020·The Application of Clinical Genetics·Eyad AltamimiBilal Azab
Mar 4, 2021·Journal of Cellular and Molecular Medicine·Delphine MartirePascal de Santa Barbara
Mar 18, 2021·American Journal of Physiology. Gastrointestinal and Liver Physiology·Sohaib Khalid HashmiRobert O Heuckeroth
Apr 23, 2021·Cold Spring Harbor Molecular Case Studies·Kiely N JamesKatarzyna A Ellsworth

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