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.
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Acknowledgements
We would like to thank the family for their participation and assistance. Research was supported through the FORGE Canada Consortium with funding provided by the Government of Canada through Genome Canada, the Canadian Institutes of Health Research (CIHR) and the Ontario Genomics Institute (OGI-049).
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Smith, A., Bulman, D., Goldsmith, C. et al. Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene. Eur J Hum Genet 23, 990–992 (2015). https://doi.org/10.1038/ejhg.2014.236
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DOI: https://doi.org/10.1038/ejhg.2014.236
