Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution

European Journal of Human Genetics : EJHG
Joakim KlarNiklas Dahl

Abstract

Familial visceral myopathy (FVM) is a rare heritable and heterogeneous condition due to impaired smooth muscle function. We identified a family segregating 11 individuals with a spectrum of visceral symptoms involving the small intestine, colon, biliary tract, urinary tract and uterus. Whole-exome sequencing revealed a novel heterozygous tandem base substitution c.806_807delinsAA (p.(Gly269Glu)) in ACTG2, encoding smooth muscle actin γ-2, in affected family members. Variants in ACTG2 were recently identified in FVM with intestinal pseudo-obstruction as well as with the congenital megacystics-microcolon-intestinal hypoperistalsis syndrome. In our family, eight affected members presented with severe complications from the biliary and/or the urinary tracts in addition to gastrointestinal pseudo-obstructions. Furthermore, all affected mothers had a history of assisted deliveries owing to poor progress during labor and weak uterine contractions. The variable involvement of multiple smooth muscle-dependent organs in our family, including the biliary tract and the uterus, add to the phenotypic spectrum associated with ACTG2 missense variants.

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Citations

Jan 28, 2016·European Journal of Human Genetics : EJHG·Ivana MateraIsabella Ceccherini
May 26, 2016·Acta Histochemica Et Cytochemica·Kiyokazu Morioka, Hiromi Takano-Ohmuro
Aug 3, 2016·American Journal of Medical Genetics. Part a·Carolina Araujo MorenoDenise Pontes Cavalcanti
Sep 2, 2016·F1000Research·Klaus BielefeldtSalman Nusrat
Apr 20, 2017·Journal of Pediatric Gastroenterology and Nutrition·Aubrey MilunskyJeff Milunsky
Jan 22, 2019·Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society·Michael CamilleriEric W Klee
Apr 28, 2021·Surgery·Julia ElrodMichael Boettcher
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
Aug 12, 2021·Journal of Investigative Medicine High Impact Case Reports·Dushyant Singh DahiyaAsim Kichloo

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