Cystic fibrosis mutations in Israeli Arab patients

Mutational spectrum of cystic fibrosis in the Lebanese population

“…The mutation 4010del4 was observed only in Christian families and was previously reported in Christian Palestinian families [2,17]. The mutations S4X and 2789 + 5G N A were also only present in Christian Maronite.…”

“…In the Palestinian population, although F508del, N1303K, and W1282K were commonly reported; however, the third most common mutation in this population, 3120 + 1Kbdel8.6Kb, was not observed in the Lebanese population [17]. No study was reported from the Syrian population except for one isolated case report about a child homozygous for F508del ( Table 2) [29].…”

Cystic fibrosis: A new mutation in the Lebanese population

“…The first three mutations are also common in Caucasian populations, the latter was only observed in Greek orthodox Arabs [4,6]. Mutations not reported amongst Arabs were also identified in the Lebanese population and 10% of the reported Lebanese CF alleles remained uncharacterized [4].…”

“…Recently, a panel of 11 common mutations accounting overall for 70% of all Arab CF chromosomes have been reported : ΔF508del, 3120 + 1G " A, N1303K, W1282X, G115X, 711 + 1G " A, S549R, I1234V, 1548delG , H139L and 4010del4 [9]. The latter three mutations are believed to have originated in the Arab native populations since they were never described in Caucasian CF patients [5][6][7][8].…”

“…Few studies have reported on Arab populations in general and only one study was conducted on the Lebanese population [4]. According to these reports, while ΔF508del mutation does not seem to account for more than 20% of all Caucasian CF chromosomes, several other mutations described in Arabs have never been described elsewhere [5][6][7][8][9].…”