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

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

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.

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Bibliographische Detailangaben
Veröffentlicht in:The Journal of pediatrics 2019-08, Vol.211, p.207-210
Hauptverfasser: Woods, Jeremy D., Payton, Kurlen S.E., Sanchez-Lara, Pedro A., Au, Margaret, Simmons, Charles F., Graham, John M.
Format: Artikel
Sprache:eng
Schlagworte:
Heterozygote
Humans
Infant, Newborn
Male
Meconium Ileus - genetics
Mutation, Missense
Receptors, Enterotoxin - genetics
Whole Exome Sequencing
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Zusammenfassung: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.
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2019.04.022