Open AccessA Novel Cystic Fibrosis Gene Mutation C.4242+1G>C in an Omani Patient: A Case Report
Author(s) -
Said Al Balushi,
Younis Al Balushi,
Moza Al Busaidi,
Latifa Al Mutawa
Publication year - 2021
Publication title -
oman medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.395
H-Index - 31
eISSN - 2070-5204
pISSN - 1999-768X
DOI - 10.5001/omj.2021.28
Subject(s) - cystic fibrosis , meconium ileus , medicine , cystic fibrosis transmembrane conductance regulator , mutation , sweat test , gene , genetic testing , meconium , newborn screening , genetics , pathology , gastroenterology , bioinformatics , pediatrics , biology , pregnancy , fetus
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.