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

Meconium ileus (MI) typically occurs in infants subsequently diagnosed with cystic fibrosis (CF). Apart from prematurity and anecdotal case reports of congenital malformations of the gut and pancreas, the only other pathophysiological cause of MI is the recently described homozygous loss of function mutations in the GUCY2C gene. GUCY2C gene mutations causing MI were first identified in Israeli Bedouin kindred and subsequently in a Lebanese family [1,2]. The gene encodes for a trans-membrane protein called guanylate cyclase 2C.

Source: Journal of Cystic Fibrosis - April 18, 2021 Category: Respiratory Medicine Authors: Sneha Varkki, Antony Terance Benjamin, Rekha Athiyarath, Sumita Danda, Ravikumar Sowmya, Gary Connett Tags: Case Report Source Type: research