A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature
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 regul...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2017-01-01
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| Series: | Annals of Thoracic Medicine |
| Subjects: | |
| Online Access: | http://www.thoracicmedicine.org/article.asp?issn=1817-1737;year=2017;volume=12;issue=4;spage=290;epage=293;aulast=Chami |
| _version_ | 1818040579204841472 |
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| author | Hassan Chami Samer Abou Arbid Rebecca Badra Chantal Farra |
| author_facet | Hassan Chami Samer Abou Arbid Rebecca Badra Chantal Farra |
| author_sort | Hassan Chami |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-10T08:16:46Z |
| format | Article |
| id | doaj.art-1f377fe6c271476da108ac1dd8812454 |
| institution | Directory Open Access Journal |
| issn | 1817-1737 1998-3557 |
| language | English |
| last_indexed | 2024-12-10T08:16:46Z |
| publishDate | 2017-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Annals of Thoracic Medicine |
| spelling | doaj.art-1f377fe6c271476da108ac1dd88124542022-12-22T01:56:26ZengWolters Kluwer Medknow PublicationsAnnals of Thoracic Medicine1817-17371998-35572017-01-0112429029310.4103/atm.ATM_76_17A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literatureHassan ChamiSamer Abou ArbidRebecca BadraChantal FarraWe 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.http://www.thoracicmedicine.org/article.asp?issn=1817-1737;year=2017;volume=12;issue=4;spage=290;epage=293;aulast=ChamiAtypical cystic fibrosisconductance transmembrane regulatory genegeneticsnew mutationnormal chloride sweat test |
| spellingShingle | Hassan Chami Samer Abou Arbid Rebecca Badra Chantal Farra A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature Annals of Thoracic Medicine Atypical cystic fibrosis conductance transmembrane regulatory gene genetics new mutation normal chloride sweat test |
| title | A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature |
| title_full | A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature |
| title_fullStr | A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature |
| title_full_unstemmed | A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature |
| title_short | A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature |
| title_sort | novel cystic fibrosis gene mutation c 2490inst in a palestinian patient a case report and review of the literature |
| topic | Atypical cystic fibrosis conductance transmembrane regulatory gene genetics new mutation normal chloride sweat test |
| url | http://www.thoracicmedicine.org/article.asp?issn=1817-1737;year=2017;volume=12;issue=4;spage=290;epage=293;aulast=Chami |
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