ABCMdb

PMID: 19845690

Moya-Quiles MR, Mondejar-Lopez P, Pastor-Vivero MD, Gonzalez-Gallego I, Juan-Fita MJ, Egea-Mellado JM, Carbonell P, Casals T, Fernandez-Sanchez A, Sanchez-Solis M, Glover G
CFTR mutations in cystic fibrosis patients from Murcia region (southeastern Spain): implications for genetic testing.
Clin Genet. 2009 Dec;76(6):577-9. Epub 2009 Oct 21., [PubMed]

Sentences

No. Mutations Sentence Comment

17 ABCC7 p.Glu585* ABCC7 p.Leu206Trp ABCC7 p.Glu1308* ABCC7 p.Arg1158* ABCC7 p.Lys710* ABCC7 p.Leu997Phe ABCC7 p.Gln890* ABCC7 p.Ala1006Glu ABCC7 p.Ala561Glu ABCC7 p.Trp202* ABCC7 p.Arg560Gly of chromosomes Frequency (%) F508dela E.10 67 36.8 G542Xa E.11 22 12.1 A1006E E.17a 10 5.5 K710X E.13 10 5.5 2789+5G>Aa I.14b 9 4.9 L206W E.6a 7 3.8 1811+1.6kbA>G I.11 6 3.3 R334Wa E.7 5 2.7 2869insG E.15 5 2.7 I507dela E.10 4 2.2 N1303Ka E.21 4 2.2 R347Pa E.7 3 1.6 711+1G>Ta I.5 3 1.6 3849+10kbC>Ta I.19 3 1.6 Q890X E.15 3 1.6 R117Ha E.4 2 1.1 R1162Xa E.19 2 1.1 2183AA>Ga E.13 2 1.1 A561E E.12 2 1.1 R560G E.11 2 1.1 1717-1G>Aa I.10 1 0.5 E1308X E.21 1 0.5 E585X E.12 1 0.5 L997F E.17a 1 0.5 1677delTA E.10 1 0.5 R1158X E.19 1 0.5 W202X E.6a 1 0.5 R74W+D1270N E.3 + E.20 1 0.5 G576A+R668C E.12 + E.13 1 0.5 Unknown 2 1.1 Total 182 100 aCFTR mutations identified with the PCR OLA CF Genotyping Assay . Login to comment 19 ABCC7 p.Gly542* By contrast, G542X showed a frequency higher than that for the entire Spanish population (7.7%) (4), although closer to that reported for the Andalucia Region (11.4%) (10). Login to comment 20 ABCC7 p.Lys710* ABCC7 p.Ala1006Glu Letter to the Editor Although we observed a marked difference in the frequency distribution of all mutations, it was interesting to note that the third and fourth most prevalent were A1006E and K710X, mutations undetected by commercial panels and each presenting with a frequency of 5.5%. Login to comment 22 ABCC7 p.Lys710* ABCC7 p.Ala1006Glu In Mediterranean France the K710X mutation showed a frequency of 0.93% and the A1006E mutation has never been reported (11). Login to comment 23 ABCC7 p.Ala1006Glu By contrast, the A1006E mutation has been previously reported in Italians (15). Login to comment 27 ABCC7 p.Lys710* ABCC7 p.Ala1006Glu This may be due to the relatively low influx of people from other Spanish regions, hence not diluting the frequency of mutations that are common in this region, including A1006E or K710X. Login to comment