Meconium Ileus due to GUCY2C gene mutations in three unrelated South Indian families

J Cyst Fibros. 2021 Sep;20(5):e84-e86. doi: 10.1016/j.jcf.2021.03.023. Epub 2021 Apr 18.

Authors

Sneha Varkki¹, Antony Terance Benjamin², Rekha Athiyarath³, Sumita Danda³, Ravikumar Sowmya², Gary Connett⁴

Affiliations

¹ Department of Paediatrics, Christian Medical College, Vellore, India.
² Kuppuswamy Naidu Memorial Hospital, Coimbatore, India.
³ Department of Clinical Genetics, Christian Medical College, Vellore, India.
⁴ National Institute for Health Research, Southampton Respiratory Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom. Electronic address: gary.connett@uhs.nhs.uk.

PMID: 33883099
DOI: 10.1016/j.jcf.2021.03.023

No abstract available

Keywords: Cystic fibrosis; Gucy2c gene mutation; Meconium ileus.

Publication types

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

MeSH terms

Cystic Fibrosis / genetics*
Humans
India
Infant, Newborn
Male
Meconium Ileus / genetics*
Meconium Ileus / surgery
Mutation, Missense
Receptors, Enterotoxin / genetics*

Substances

GUCY2C protein, human
Receptors, Enterotoxin