Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation associated with a congenital bilateral absence of vas deferens

2008 ◽  
Vol 15 (3) ◽  
pp. 270-271 ◽  
Author(s):  
Hideo Sakamoto ◽  
Takatoshi Yajima ◽  
Kohta Suzuki ◽  
Yoshio Ogawa
Keyword(s):  
Cystic Fibrosis ◽  
Gene Mutation ◽  
Vas Deferens ◽  
Cftr Gene ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Bilateral Absence ◽  
Cystic Fibrosis Transmembrane

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.

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