Abstract
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.
Keywords
Publication details
- DOI
- 10.5001/omj.2021.28
- Journal
- Oman Medical Journal
- Publisher
- Oman Medical Specialty Board
- Open access
- Gold open access
Cite this article
APA 7
Al Balushi, S., Al Balushi, Y., Al Busaidi, M., & Al Mutawa, L. (2021). A Novel Cystic Fibrosis Gene Mutation C.4242+1G>C in an Omani Patient: A Case Report. Oman Medical Journal. https://doi.org/10.5001/omj.2021.28
MLA 9
Al Balushi, Said, et al. "A Novel Cystic Fibrosis Gene Mutation C.4242+1G>C in an Omani Patient: A Case Report." Oman Medical Journal, 2021. https://doi.org/10.5001/omj.2021.28.
Chicago (author–date)
Al Balushi, Said, Younis Al Balushi, Moza Al Busaidi, and Latifa Al Mutawa. 2021. "A Novel Cystic Fibrosis Gene Mutation C.4242+1G>C in an Omani Patient: A Case Report." Oman Medical Journal. https://doi.org/10.5001/omj.2021.28.
Harvard
Al Balushi, S., Al Balushi, Y., Al Busaidi, M. and Al Mutawa, L. (2021) 'A Novel Cystic Fibrosis Gene Mutation C.4242+1G>C in an Omani Patient: A Case Report', Oman Medical Journal. doi:10.5001/omj.2021.28.
Vancouver
Al Balushi S, Al Balushi Y, Al Busaidi M, Al Mutawa L. A Novel Cystic Fibrosis Gene Mutation C.4242+1G>C in an Omani Patient: A Case Report. Oman Medical Journal. 2021. doi:10.5001/omj.2021.28
IEEE
S. Al Balushi, Y. Al Balushi, M. Al Busaidi, and L. Al Mutawa, "A Novel Cystic Fibrosis Gene Mutation C.4242+1G>C in an Omani Patient: A Case Report," Oman Medical Journal, 2021, doi: 10.5001/omj.2021.28.