Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene

Eur J Hum Genet. 2015 Jul;23(7):990-2. doi: 10.1038/ejhg.2014.236. Epub 2014 Nov 5.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Echogenic Bowel / diagnosis
  • Echogenic Bowel / etiology
  • Family Health
  • Female
  • Fetal Diseases / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Ileus / complications
  • Ileus / genetics*
  • Infant, Newborn
  • Lebanon
  • Male
  • Meconium*
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Receptors, Enterotoxin
  • Receptors, Guanylate Cyclase-Coupled / genetics*
  • Receptors, Peptide / genetics*
  • Sequence Homology, Amino Acid


  • Receptors, Peptide
  • GUCY2C protein, human
  • Receptors, Enterotoxin
  • Receptors, Guanylate Cyclase-Coupled