Open AccessA novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature
Author(s) -
Hassan Chami,
Samer Abou Arbid,
Rebecca Badra,
Chantal Farra
Publication year - 2017
Publication title -
annals of thoracic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.639
H-Index - 33
eISSN - 1817-1737
pISSN - 1998-3557
DOI - 10.4103/atm.atm_76_17
Subject(s) - cystic fibrosis , medicine , cystic fibrosis transmembrane conductance regulator , mutation , genetic testing , ivacaftor , compound heterozygosity , gene , pseudomonas aeruginosa , accession number (library science) , pathology , genetics , genbank , biology , bacteria
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.