Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene
- 5 November 2014
- journal article
- case report
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 23 (7), 990-992
- https://doi.org/10.1038/ejhg.2014.236
Abstract
Meconium ileus is most often associated with mutations in the CFTR gene; however recently, mutations in GUCY2C in the Bedouin population have also been shown to result in this phenotype. This gene codes for an intestinal transmembrane receptor that generates cyclic GMP, which activates cystic fibrosis transmembrane receptor. We report a third family that supports the association of variants in the GUCY2C gene with meconium ileus (MI). A Lebanese kindred was studied and individuals affected with MI had either homozygous or compound heterozygous variants in GUCY2C. The earliest manifestation of the affected individuals was the presence of second trimester fetal echogenic bowel, thus resulting in the expansion of the differential diagnosis of this ultrasound finding.This publication has 9 references indexed in Scilit:
- Mutations inTMEM231cause Joubert syndrome in French CanadiansJournal of Medical Genetics, 2012
- Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2CAmerican Journal of Human Genetics, 2012
- Familial Diarrhea Syndrome Caused by an ActivatingGUCY2CMutationThe New England Journal of Medicine, 2012
- Structure and function of the heat-stable enterotoxin receptor/guanylyl cyclase CPublished by Springer Science and Business Media LLC ,2002
- Structure and function of the heat-stable enterotoxin receptor/guanylyl cyclase CMolecular and Cellular Biochemistry, 2002
- Guanylyl cyclases and signaling by cyclic GMP.2000
- Distribution of heat-stable enterotoxin/guanylin receptors in the intestinal tract of man and other mammals.1994
- Meconium ileus in the absence of cystic fibrosis.Archives of Disease in Childhood, 1992
- Age-related differences in receptors for Escherichia coli heat-stable enterotoxin in the small and large intestine of childrenGastroenterology, 1988