Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction

European Journal of Human Genetics : EJHG
Ivana MateraIsabella Ceccherini

Abstract

Chronic intestinal pseudo-obstruction (CIPO) syndromes are heterogeneous gastrointestinal disorders, caused by either neuropathy or myopathy, resulting in compromised peristalsis and intestinal obstruction. CIPO can have a profound impact on quality of life, leading the most severely affected individuals to life-long parenteral nutrition and urinary catheterization. To search for disease causing gene(s), we performed the whole exome sequencing (WES) in both eight sporadic and two familial cases, followed by targeted sequencing in additional CIPO patients. After identifying a heterozygous missense variant in the ACTG2 gene in one of 10 patients undergone WES, targeted Sanger sequencing of this gene allowed to detect heterozygous missense variants in 9 of 23 further patients with either megacystis-microcolon-intestinal hypoperistalsis syndrome or intestinal pseudo-obstruction. Variants thus identified, one of which still unreported, affect highly conserved regions of the ACTG2 gene that encodes a protein crucial for correct enteric muscle contraction. These findings provided evidence for a correlation between the clinical phenotype and genotype at the ACTG2 locus, a first step to improve the diagnosis and prognosis of these sever...Continue Reading

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Citations

Aug 3, 2016·American Journal of Medical Genetics. Part a·Carolina Araujo MorenoDenise Pontes Cavalcanti
Jun 9, 2016·American Journal of Medical Genetics. Part a·Valentina RossiAlessio Pini Prato
Jul 19, 2016·Developmental Biology·Erwin BrosensMaria M Alves
Aug 25, 2017·Journal of Pediatric Gastroenterology and Nutrition·Laura LombardiGiuseppe Martucciello
Feb 18, 2018·European Journal of Human Genetics : EJHG·Carolina Araujo MorenoDenise Pontes Cavalcanti
May 22, 2018·Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society·G RavenscroftN G Laing
Nov 16, 2018·Pediatric Surgery International·T MalulekeS W Moore
Aug 19, 2020·Journal of Pediatric Gastroenterology and Nutrition·Zhiliang WeiYing Wang
Apr 23, 2021·Cold Spring Harbor Molecular Case Studies·Kiely N JamesKatarzyna A Ellsworth

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