Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia

Abstract

A descriptive study was undertaken to characterize the cystic fibrosis transmembrane regulator gene mutations (CFTR) in the Saudi Arabian cystic fibrosis (CF) population in relation to clinical presentation and demographic and ethnic origin. During the period October 1992 to September 1997, 70 patients from 46 families were diagnosed as having CF, based on a typical clinical picture and sweat chloride levels > 60 mmol/l and were screened for CFTR mutations. Twelve mutations were identified in 34 families, which constitutes 70% of the CF alleles in the study group. Pancreatic insufficiency (PI) was found in the following mutations: 1548delG in exon 10 (15%) which occurred mainly in native Saudi patients in the central province; 3120 + 1G-->A in intron 16 (10%) and H139L in exon 4 (7%), found mainly in native Saudis from the eastern province; delta F508 mutation (13%) which occurred mainly in expatriates of Middle Eastern origin from different provinces; L117X in exon 19 (2%); G115X in exon 4 (2%); 711 + 1G-->A in intron 5 (2%); N 1303K in exon 21 (2%) and 425del42 in exon 4 (1%); I1234V in exon 19 (13%) with a predominance of nasal polyps and a variable degree of PI and lung disease; R553X in exon 11 (1%), with electrolyte imbalance; and S549R in 11 (2%) with pancreatic sufficiency and minimal pulmonary disease. The clinical picture did not differ significantly between patients of different ethnic origins with the same CFTR mutation.

A Haplotype Framework for Cystic Fibrosis Mutations in Iran

“…Two common mutations previously reported in Arab populations, including c.3601Ϫ111GϾC 52 and c.3120ϩ1kbdel8.6kb, 53 were not assayed in this study because they were outside the genomic regions amplified by PCR. Six additional mutations reported in at least two other Arab populations, including c.711ϩ1GϾA, p.R75X, c.1548delG, c.3120ϩ1GϾA, c.3199del6, and p.S549R, 30,42,[53][54][55][56] could have been detected in our assay but were not found in Iran.…”

“…This frequency is far lower than in populations of European descent (approximately 60%) but comparable with several countries of West Asia and North Africa (Algeria, 20%; Lebanon, 35%; Tunisia, 18%; Pakistanis in the United Kingdom, 19%; Turkey, 24%; and Saudi Arabia, 15%). 6,9,28,30 The frequencies of the ⌬F508 mutation in Iran and Saudi Arabia were the lowest yet reported for any country.…”

“…The same assessment has been proposed for populations of Turkey and Saudi Arabia. 9,28,30 Therefore, in addition to Europe and the United States, CF is likely to be prevalent in many other countries as well, although the mutation spectrums may be different. We hope to ascertain CFTR mutation carrier frequencies and CF incidence among Iranians as soon as possible.…”

Mutational spectrum of cystic fibrosis in the Lebanese population

“…Table 2 compares the frequency of mutations in the Lebanese population to those from neighboring Arab populations. In populations from Saudi Arabia, United Arab Emirates, Oman, Qatar, Kuwait, and Jordan the most commonly reported mutations were 1548delG, I123V, F508del, 3120 + 1G → A, and H139L; while F508del (7.4%-15%) and N1303K (1.5%-14%) are not common, and the mutation W1282X is absent from these populations ( Table 2) [1,3,[24][25][26]. In the Bahraini population, the most common mutations are 2043delG, 548A → T, 4041C → G, and F508del accounting for 66% of CF alleles [27].…”

DNA Diagnosis of Single Gene Disorders in Patients of Non-European Origin: Experience from Kuwait

“…These mutations accounted for 34% of all CF alleles in Kuwait and 55% of Arabic alleles. As several other mutations (1548delG, I1234V, 3120+1G ] A and H139L) were previously reported in Saudi Arabia [3,4] , corresponding tests were designed. Three of these mutations (1548delG, I1234V and 3120+1G ] A) were present in Kuwaiti patients, and together they accounted for 24% of the Arab CF alleles from Kuwait.…”