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