Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia
| Autor: | Hanaa Banjar, Talal AlMaghamsi, Ibrahim Al-Mogarri, Sara AlKaf, Sami Alhaider, Nabil Moghrabi, Abdulaziz Al-Enazi, Imran Nizami |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Veterinary medicine
050402 sociology Population Saudi Arabia Consanguinity Arab Cystic fibrosis Cftr gene 03 medical and health sciences 0302 clinical medicine 0504 sociology 030225 pediatrics Chart review Medicine CFTR education education.field_of_study biology business.industry 05 social sciences lcsh:RJ1-570 lcsh:Pediatrics medicine.disease Cystic fibrosis transmembrane conductance regulator Geographic distribution Pediatrics Perinatology and Child Health biology.protein Original Article business |
| Zdroj: | International Journal of Pediatrics and Adolescent Medicine, Vol 8, Iss 1, Pp 25-28 (2021) International Journal of Pediatrics & Adolescent Medicine |
| ISSN: | 2352-6467 |
| Popis: | Introduction Cystic fibrosis (CF) has been reported before in Saudi Arabia and the Gulf area. It has been found that screening for 10 most common cystic fibrosis transmembrane conductance regulator (CFTR) mutations can detect 80% of positive CFTR cases. Objectives To determine the geographic distribution of the most common CFTR variants in 5 regions of Saudi Arabia. Methodology A retrospective chart review of all CFTR variants conducted from January 1, 1992 to December 1, 2017. Results The ten most common CFTR mutations in the Saudi population were as follows: p.Gly473GlufsX54 (17%), p.Phe508del (12%), p.Ile1234Val (12%), 3120+1G > A (11%), 711+1G > T (9%), p.His139Leu (6%), p.Gln637Hisfs (5%), p.Ser549Arg (3%), p.N1303K (3%), and delExon19-21 (2%) along with other variants 79 (20%). In terms of the highest frequency, the c.2988+1G > A (3120+1G > A) variant was found in the eastern province (7.3%) of Saudi Arabia, the c.1418delG (p.Gly473GlufsX54) variant in the northern province (6.8%), the c.579+1G > T (711+1G > T) variant in the southern province (4.8%), the c.3700A > G (p.Ile1234Val) variant in the central province (4.8%), and c.1521_1523delCTT (p.Phe508del) variant in the western province (4.3%). Conclusion The eastern and the northern provinces have the highest prevalence of CF, with the c.2988+1G > A (3120+1G > A) and c.1418delG (p.Gly473GlufsX54) variants showing the highest distribution in the Saudi CF population, which may reflect the effect of consanguinity within the same tribe. Proper family screening and counseling should be emphasized. |
| Databáze: | OpenAIRE |
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