Pancreatic Mass in a Young CFTR Carrier With a Heterozygous p.R117H CFTR Gene Mutation and Homozygous 7T

Pancreas ◽  
2015 ◽  
Vol 44 (2) ◽  
pp. 343-345
Author(s):  
Thomas Hanna ◽  
Zainab Abdul-Rahman ◽  
William Greenhalf ◽  
Eithne Costello ◽  
John P. Neoptolemos
Keyword(s):  
Gene Mutation ◽  
Cftr Gene ◽  
Pancreatic Mass

scholarly journals A Novel Cystic Fibrosis Gene Mutation C.4242+1G>C in an Omani Patient: A Case Report

2021 ◽  
Vol 36 (2) ◽  
pp. e243-e243
Author(s):  
Said Al Balushi ◽  
Younis Al Balushi ◽  
Moza Al Busaidi ◽  
Latifa Al Mutawa
Keyword(s):  
Cystic Fibrosis ◽  
Gene Mutation ◽  
Digestive System ◽  
The Body ◽  
Cystic Fibrosis Gene ◽  
Cftr Gene ◽  
Sweat Test ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Cystic Fibrosis Transmembrane

Cystic fibrosis (CF) is a genetic disease caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that affects multisystems in the body, particularly the lungs and digestive system. We report a case of an Omani newborn who presented with meconium ileus and high suspicion of CF. Thus, full CFTR gene sequencing was performed, which revealed a homozygous unreported C.4242+1G>C novel gene mutation. Both parents were found to be heterozygous for this mutation. This case sheds light on the importance of the extensive genetic testing of typical CF cases in the absence of family history or during neonatal presentations, especially when the sweat test cannot be performed and the diagnosis can be challenging.

scholarly journals Gene Mutation in MicroRNA Target Sites of CFTR Gene: A Novel Pathogenetic Mechanism in Cystic Fibrosis?

PLoS ONE ◽  
2013 ◽  
Vol 8 (3) ◽  
pp. e60448 ◽  
Author(s):  
Felice Amato ◽  
Manuela Seia ◽  
Sonia Giordano ◽  
Ausilia Elce ◽  
Federica Zarrilli ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Gene Mutation ◽  
Cftr Gene ◽  
Microrna Target ◽  
Pathogenetic Mechanism ◽  
Target Sites

scholarly journals CF diagnostic challenges: sweat test and CFTR gene mutation testing results

2010 ◽  
Vol 9 ◽  
pp. S13
Author(s):  
H. Makukh ◽  
M. Tyrkus ◽  
O. Hnateyko ◽  
L. Chorna ◽  
L. Bober
Keyword(s):  
Gene Mutation ◽  
Mutation Testing ◽  
Cftr Gene ◽  
Sweat Test

CFTR gene mutation spectrum among 735 Iranian patients with cystic fibrosis: A comprehensive systematic review

2021 ◽  
Author(s):  
Reza Alibakhshi ◽  
Aboozar Mohammadi ◽  
Sahand Khamooshian ◽  
Mohsen Kazeminia ◽  
Keivan Moradi
Keyword(s):  
Systematic Review ◽  
Cystic Fibrosis ◽  
Gene Mutation ◽  
Mutation Spectrum ◽  
Cftr Gene ◽  
Iranian Patients

scholarly journals Novel CFTR gene mutation in a patient with CBAVD

2007 ◽  
Vol 6 (6) ◽  
pp. 423-425 ◽  
Author(s):  
Denise L.M. Goh ◽  
Youyou Zhou ◽  
Samuel S. Chong ◽  
Nicola S.P. Ngiam ◽  
Daniel Y.T. Goh
Keyword(s):  
Gene Mutation ◽  
Cftr Gene

Association of CFTR gene mutation with bronchial asthma and its severity in Indian children: A case-control study

2012 ◽  
Vol 39 (2) ◽  
pp. 113-121 ◽  
Author(s):  
Shally Awasthi ◽  
Nutan Maurya ◽  
Sarita Agarwal ◽  
Pratibha Dixit ◽  
Srinivasan Muthuswamy ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Bronchial Asthma ◽  
Case Control Study ◽  
Case Control ◽  
Cftr Gene ◽  
Indian Children ◽  
Control Study

CFTR Gene Mutation in Patients with Apparently Idiopathic Pancreatitis: Lack of Phenotype-Genotype Correlation

Pancreatology ◽  
2010 ◽  
Vol 10 (2-3) ◽  
pp. 158-164 ◽  
Author(s):  
Anne-Laure Pelletier ◽  
Thierry Bienvenu ◽  
Vinciane Rebours ◽  
Dermot O'Toole ◽  
Olivia Hentic ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Cftr Gene ◽  
Idiopathic Pancreatitis ◽  
Genotype Correlation

scholarly journals Diagnostic Testing by CFTR Gene Mutation Analysis in a Large Group of Hispanics

2005 ◽  
Vol 7 (2) ◽  
pp. 289-299 ◽  
Author(s):  
Iris Schrijver ◽  
Sudha Ramalingam ◽  
Ramalingam Sankaran ◽  
Steve Swanson ◽  
Charles L.M. Dunlop ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Diagnostic Testing ◽  
Cftr Gene ◽  
Large Group ◽  
Gene Mutation Analysis
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