Familial chronic megacolon presenting in childhood or adulthood: Seeking the presumed gene association

Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society
Michael CamilleriEric W Klee


We identified a pedigree over five generations with 49 members, some of whom had chronic megacolon presenting in adolescence or adulthood. We aimed to assess the genetic cause of chronic megacolon through clinical and DNA studies. After ethical approval and informed consent, family members provided answers to standard bowel disease questionnaires, radiological or surgical records, and DNA (buccal mucosal scraping). Exome DNA sequencing of colon tissue or blood DNA from seven family members with colon or duodenal dilatation, or no megacolon (n = 1) was carried out. Sanger sequencing was performed in 22 additional family members to further evaluate candidate variants. The study focused on genes of potential relevance to enteric nerve (ENS) maturation and Hirschsprung's disease or megacolon, based on the literature (GFRA1, NKX2-1, KIF26A, TPM3, ACTG2, SCN10A, and C17orf107 [CHRNE]) and other genetic variants that co-segregated with megacolon in the six affected family members. Information was available in all except five members alive at time of study; among 30 members who provided DNA, six had definite megacolon, one megaduodenum, seven significant constipation without bowel dilatation, and 16 normal bowel function by questionnai...Continue Reading


Oct 1, 1975·Journal of Pediatric Surgery·R J TouloukianR H Roth
Nov 1, 1990·Mayo Clinic Proceedings·N J TalleyL J Melton
Feb 1, 1994·Journal of Pediatric Surgery·T KurodaM Saeki
Apr 8, 1998·Annual Review of Neuroscience·J G Flanagan, P Vanderhaeghen
Apr 7, 2004·Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society·R P KapurV Pachnis
May 13, 2008·Gastroenterology·Seth Sweetser, Michael Camilleri
Oct 22, 2009·Acta Neuropathologica·Nestor D TomyczHannah C Kinney
Feb 23, 2012·Pediatric Neurology·Paulo José LorenzoniLineu Cesar Werneck
Sep 25, 2012·Pediatric Surgery International·S W Moore
Jul 3, 2013·Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association·Priya Vijayvargiya, Michael Camilleri
Jan 15, 2014·Journal of Cellular and Molecular Medicine·Dileep G NairMichael G Blennerhassett
Jul 26, 2014·Histochemistry and Cell Biology·Samir JabariAlexandre B M da Silveira
Mar 19, 2015·European Journal of Human Genetics : EJHG·Joakim KlarNiklas Dahl
Apr 15, 2015·Digestive Diseases and Sciences·Ralph Hurley O'DwyerAdil E Bharucha
Jul 17, 2015·Pediatric Surgery International·Danielle Mc Laughlin, Prem Puri
Jul 13, 2016·United European Gastroenterology Journal·Denys GibbonsDeborah Eckert
Aug 5, 2016·Physiology·Kenton M SandersSean M Ward
Dec 8, 2016·BMC Bioinformatics·Patrice Godard, Matthew Page
Feb 27, 2017·Current Topics in Developmental Biology·Sigmar StrickerAlexandra Schambony
Mar 8, 2017·Gene·Andrius Kazlauskas
Jun 12, 2017·Pediatric Surgery International·D HendersonPrem Puri
Jan 5, 2018·Nature Reviews. Gastroenterology & Hepatology·Robert O Heuckeroth

❮ Previous
Next ❯


Apr 7, 2019·Digestive Diseases and Sciences·Xiao Jing Wang, Michael Camilleri
Jun 27, 2019·Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society·Wendy YangPei-Lung Chen
Jan 29, 2020·World Journal of Gastroenterology : WJG·Wan-Ru MaDa-Jun Deng
Jul 29, 2020·Gastroenterology Clinics of North America·Michael Camilleri, Justin Brandler

❮ Previous
Next ❯

Related Concepts

Trending Feeds


Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.


Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.


Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Investigative Ophthalmology & Visual Science
Bethany A KlossTerri L Young
La Pediatria
© 2021 Meta ULC. All rights reserved