Meconium Ileus due to GUCY2C gene mutations in three unrelated South Indian families
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. The protein is expressed in the intestinal epithelium where it is an activator of the cystic fibrosis transmembrane conductance regulator (CFTR). We report three further cases of MI in families in South India, homozygous for GUCY 2C gene variants.
Cystic fibrosis, Gucy2c gene mutation, Meconium ileus
e84-e86
Varkki, Sneha
48e8531a-51ce-43a7-8c82-bdb7a0f3d524
Benjamin, Antony Terance
e1aafc54-3cb3-4dbe-aebd-c34dc4134ecc
Athiyarath, Rekha
2edf3ec0-ca05-4510-8f5d-bb2854b62bfa
Danda, Sumita
7895be63-3c6a-491b-a850-29f24c92ff03
Sowmya, Ravikumar
2abd013b-4b49-44c5-b15a-145f7cd51101
Connett, Gary
55d5676c-90d8-46bf-a508-62eded276516
September 2021
Varkki, Sneha
48e8531a-51ce-43a7-8c82-bdb7a0f3d524
Benjamin, Antony Terance
e1aafc54-3cb3-4dbe-aebd-c34dc4134ecc
Athiyarath, Rekha
2edf3ec0-ca05-4510-8f5d-bb2854b62bfa
Danda, Sumita
7895be63-3c6a-491b-a850-29f24c92ff03
Sowmya, Ravikumar
2abd013b-4b49-44c5-b15a-145f7cd51101
Connett, Gary
55d5676c-90d8-46bf-a508-62eded276516
Varkki, Sneha, Benjamin, Antony Terance, Athiyarath, Rekha, Danda, Sumita, Sowmya, Ravikumar and Connett, Gary
(2021)
Meconium Ileus due to GUCY2C gene mutations in three unrelated South Indian families.
Journal of Cystic Fibrosis, 20 (5), .
(doi:10.1016/j.jcf.2021.03.023).
Abstract
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. The protein is expressed in the intestinal epithelium where it is an activator of the cystic fibrosis transmembrane conductance regulator (CFTR). We report three further cases of MI in families in South India, homozygous for GUCY 2C gene variants.
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More information
Accepted/In Press date: 24 March 2021
e-pub ahead of print date: 18 April 2021
Published date: September 2021
Additional Information:
Funding Information:
Thanks to Drs John Mathai, John K Thomas and Prof. G Rajamani for their surgical input and MedGenome Labs, Bangalore, India. Exome studies were made possible through funding provided by the American Cystic Fibrosis Foundation.
Case report
Keywords:
Cystic fibrosis, Gucy2c gene mutation, Meconium ileus
Identifiers
Local EPrints ID: 450403
URI: http://eprints.soton.ac.uk/id/eprint/450403
ISSN: 1569-1993
PURE UUID: f297d82f-e41a-42e4-82cb-e2abbed496a1
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Date deposited: 27 Jul 2021 17:23
Last modified: 18 Mar 2024 03:46
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Contributors
Author:
Sneha Varkki
Author:
Antony Terance Benjamin
Author:
Rekha Athiyarath
Author:
Sumita Danda
Author:
Ravikumar Sowmya
Author:
Gary Connett
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