Annals of Thoracic Medicine Official publication of the Saudi Thoracic Society, affiliated to King Saud University
 
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CASE REPORT
Year : 2017  |  Volume : 12  |  Issue : 4  |  Page : 290-293

A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature


1 Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon; The Pulmonary Center, Boston University School of Medicine, Boston, MA 02118, USA
2 Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon
3 Department of Pathology and Laboratory Medicine, Medical Genetics Unit, American University of Beirut Medical Center, Beirut, Lebanon

Correspondence Address:
Chantal Farra
Department of Pathology and Laboratory Medicine, Medical Genetics Unit, American University of Beirut Medical Center, Riad El Solh, P.O. Box: 11-0236, Beirut
Lebanon
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DOI: 10.4103/atm.ATM_76_17

PMID: 29118863

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We report the case of a 19-year-old male patient of Palestinian descent, who presented with a 1-year history of recurrent Pseudomonas aeruginosa respiratory infections, weight loss, chronic diarrhea, and a normal chloride sweat test. A panel for common cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations test was also negative. Cystic fibrosis (CF) was still clinically suspected thus, full CFTR gene sequencing was performed, which revealed a homozygous unreported mutation c.2490insT (GenBank accession number: BankIt2019289 seq1 MF167456). Both parents were also found to be heterozygous for this mutation. This case highlights the importance of clinical evaluation and the need for extensive genetic investigation when dealing with a genetic disease with wide variability in a clinical presentation such as CF.


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