title: Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene.
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.
authors.affiliation: Department of Genetics, Children's Hospital of Eastern Ontario, Research Institute and University of Ottawa, Ottawa, Ontario, Canada.
authors.forename: Amanda
authors.initials: A
authors.lastname: Smith
authors.affiliation: Department of Genetics, Children's Hospital of Eastern Ontario, Research Institute and University of Ottawa, Ottawa, Ontario, Canada.
authors.forename: Dennis E
authors.initials: DE
authors.lastname: Bulman
authors.affiliation: Department of Genetics, Children's Hospital of Eastern Ontario, Research Institute and University of Ottawa, Ottawa, Ontario, Canada.
authors.forename: Claire
authors.initials: C
authors.lastname: Goldsmith
authors.affiliation: Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, Montréal, Quebec, Canada.
authors.forename: Eric
authors.initials: E
authors.lastname: Bareke
authors.affiliation: Department of Human Genetics, McGill University and Genome Quebec Innovation Centre, Montréal, Quebec, Canada.
authors.forename: Jacek
authors.initials: J
authors.lastname: Majewski
authors.affiliation: Department of Genetics, Children's Hospital of Eastern Ontario, Research Institute and University of Ottawa, Ottawa, Ontario, Canada.
authors.forename: Kym M
authors.initials: KM
authors.lastname: Boycott
authors.affiliation: Department of Genetics, Children's Hospital of Eastern Ontario, Research Institute and University of Ottawa, Ottawa, Ontario, Canada.
authors.forename: Sarah M
authors.initials: SM
authors.lastname: Nikkel
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D058535:Echogenic Bowel / Q000175:diagnosis / Q000209:etiology; D005192:Family Health; D005260:Female; D005315:Fetal Diseases / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D045823:Ileus / Q000150:complications / Q000235:genetics*; D007231:Infant, Newborn; D007861:Lebanon; D008297:Male; D008470:Meconium; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D000074261:Receptors, Enterotoxin; D050705:Receptors, Guanylate Cyclase-Coupled / Q000235:genetics*; D018000:Receptors, Peptide / Q000235:genetics*; D017386:Sequence Homology, Amino Acid
chemical_list: D018000:Receptors, Peptide; C000613654:GUCY2C protein, human; D000074261:Receptors, Enterotoxin; D050705:Receptors, Guanylate Cyclase-Coupled