Non-Cystic Fibrosis-Related Meconium Ileus: GUCY2C-Associated Disease Discovered through Rapid Neonatal Whole-Exome Sequencing

Jeremy D Woods; Kurlen S E Payton; Pedro A Sanchez-Lara; Margaret Au; Charles F Simmons; John M Graham Jr

doi:10.1016/j.jpeds.2019.04.022

Non-Cystic Fibrosis-Related Meconium Ileus: GUCY2C-Associated Disease Discovered through Rapid Neonatal Whole-Exome Sequencing

J Pediatr. 2019 Aug:211:207-210. doi: 10.1016/j.jpeds.2019.04.022. Epub 2019 May 10.

Authors

Jeremy D Woods¹, Kurlen S E Payton², Pedro A Sanchez-Lara², Margaret Au², Charles F Simmons², John M Graham Jr³

Affiliations

¹ David Geffen School of Medicine at the University of California, Los Angeles (UCLA), Los Angeles, CA.
² Cedars-Sinai Medical Center, Los Angeles, CA.
³ Cedars-Sinai Medical Center, Los Angeles, CA. Electronic address: john.graham@cshs.org.

PMID: 31079856
DOI: 10.1016/j.jpeds.2019.04.022

Abstract

Meconium ileus is caused by cystic fibrosis; however, mutations in the GUCY2C gene also cause this disease. We report non-cystic fibrosis meconium ileus in an infant of non-Middle Eastern origin with compound heterozygous mutations in GUCY2C.

Publication types

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

MeSH terms

Exome Sequencing*
Heterozygote
Humans
Infant, Newborn
Male
Meconium Ileus / genetics*
Mutation, Missense*
Receptors, Enterotoxin / genetics*

Substances

GUCY2C protein, human
Receptors, Enterotoxin