Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia

• DOI: 10.1016/j.ijpam.2019.12.002
• Publication Date: 2019-12-10T08:46:33Z
• Authors: Hanaa Banjar; Ibrahim Al-Mogarri; Imran Nizami; Sami Al-Haider; Talal AlMaghamsi; Sara Alkaf; Abdulaziz Al-Enazi; Nabil Moghrabi
• Keywords: Tribe

Cystic fibrosis (CF) has been reported before in Saudi Arabia and the Gulf area. It found that screening for 10 most common cystic transmembrane conductance regulator (CFTR) mutations can detect 80% of positive CFTR cases.To determine geographic distribution variants 5 regions Arabia.A retrospective chart review all conducted from January 1, 1992 to December 2017.The ten population were as follows: p.Gly473GlufsX54 (17%), p.Phe508del (12%), p.Ile1234Val 3120+1G > A (11%), 711+1G T (9%), p.His139Leu (6%), p.Gln637Hisfs (5%), p.Ser549Arg (3%), p.N1303K delExon19-21 (2%) along with other 79 (20%). In terms highest frequency, c.2988+1G (3120+1G A) variant was eastern province (7.3%) Arabia, c.1418delG (p.Gly473GlufsX54) northern (6.8%), c.579+1G (711+1G T) southern (4.8%), c.3700A G (p.Ile1234Val) central c.1521_1523delCTT (p.Phe508del) western (4.3%).The provinces have prevalence CF, showing CF population, which may reflect effect consanguinity within same tribe. Proper family counseling should be emphasized.