ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation

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Abstract

Primary visceral myopathy caused by a pathogenic mutation in the gene encoding the enteric smooth muscle actin gamma 2 (ACTG2) affects gastrointestinal and genitourinary tracts and often presents as chronic intestinal pseudoobstruction. We present a case of pediatric onset chronic intestinal pseudoobstruction associated with a novel missense ACTG2 mutation c.439G>T/p.G147C. In addition to the known disease manifestations of feeding intolerance and intestinal malrotation, our patient had a late-onset hypertrophic pyloric stenosis and a late-onset choledochal cyst, the former of which has not previously been described in patients with ACTG2-associated visceral myopathy.

Original languageEnglish (US)
JournalInternational Journal of Surgical Pathology
DOIs
StateAccepted/In press - Jan 1 2018

Fingerprint

Hypertrophic Pyloric Stenosis
Choledochal Cyst
Intestinal Pseudo-Obstruction
Missense Mutation
Actins
Mutation
Smooth Muscle
Gastrointestinal Tract
Pediatrics
Genes

Keywords

  • ACTG2
  • actin gamma 2
  • choledochal cyst
  • chronic intestinal pseudoobstruction
  • CIPO
  • hypertrophic pyloric stenosis
  • visceral myopathy

ASJC Scopus subject areas

  • Anatomy
  • Surgery
  • Pathology and Forensic Medicine

Cite this

@article{34468be28efd43198286c6b29d8e2787,
title = "ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation",
abstract = "Primary visceral myopathy caused by a pathogenic mutation in the gene encoding the enteric smooth muscle actin gamma 2 (ACTG2) affects gastrointestinal and genitourinary tracts and often presents as chronic intestinal pseudoobstruction. We present a case of pediatric onset chronic intestinal pseudoobstruction associated with a novel missense ACTG2 mutation c.439G>T/p.G147C. In addition to the known disease manifestations of feeding intolerance and intestinal malrotation, our patient had a late-onset hypertrophic pyloric stenosis and a late-onset choledochal cyst, the former of which has not previously been described in patients with ACTG2-associated visceral myopathy.",
keywords = "ACTG2, actin gamma 2, choledochal cyst, chronic intestinal pseudoobstruction, CIPO, hypertrophic pyloric stenosis, visceral myopathy",
author = "Rebecca Collins and Barth, {Bradley A} and Megison, {Stephen M} and Cory Pfeifer and Rice, {Luke M.} and Samar Harris and Timmons, {Charles F} and Dinesh Rakheja",
year = "2018",
month = "1",
day = "1",
doi = "10.1177/1066896918786586",
language = "English (US)",
journal = "International Journal of Surgical Pathology",
issn = "1066-8969",
publisher = "SAGE Publications Inc.",

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T1 - ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation

AU - Collins, Rebecca

AU - Barth, Bradley A

AU - Megison, Stephen M

AU - Pfeifer, Cory

AU - Rice, Luke M.

AU - Harris, Samar

AU - Timmons, Charles F

AU - Rakheja, Dinesh

PY - 2018/1/1

Y1 - 2018/1/1

N2 - Primary visceral myopathy caused by a pathogenic mutation in the gene encoding the enteric smooth muscle actin gamma 2 (ACTG2) affects gastrointestinal and genitourinary tracts and often presents as chronic intestinal pseudoobstruction. We present a case of pediatric onset chronic intestinal pseudoobstruction associated with a novel missense ACTG2 mutation c.439G>T/p.G147C. In addition to the known disease manifestations of feeding intolerance and intestinal malrotation, our patient had a late-onset hypertrophic pyloric stenosis and a late-onset choledochal cyst, the former of which has not previously been described in patients with ACTG2-associated visceral myopathy.

AB - Primary visceral myopathy caused by a pathogenic mutation in the gene encoding the enteric smooth muscle actin gamma 2 (ACTG2) affects gastrointestinal and genitourinary tracts and often presents as chronic intestinal pseudoobstruction. We present a case of pediatric onset chronic intestinal pseudoobstruction associated with a novel missense ACTG2 mutation c.439G>T/p.G147C. In addition to the known disease manifestations of feeding intolerance and intestinal malrotation, our patient had a late-onset hypertrophic pyloric stenosis and a late-onset choledochal cyst, the former of which has not previously been described in patients with ACTG2-associated visceral myopathy.

KW - ACTG2

KW - actin gamma 2

KW - choledochal cyst

KW - chronic intestinal pseudoobstruction

KW - CIPO

KW - hypertrophic pyloric stenosis

KW - visceral myopathy

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