ABCMdb

PMID: 15333598

Grangeia A, Niel F, Carvalho F, Fernandes S, Ardalan A, Girodon E, Silva J, Ferras L, Sousa M, Barros A
Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens.
Hum Reprod. 2004 Nov;19(11):2502-8. Epub 2004 Aug 27., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC7 p.Arg334Trp ABCC7 p.Arg334Trp ABCC7 p.Gly542* ABCC7 p.Gly542* The most frequent mutations were F508del and R334W in CBAVD and G542X in CUAVD, with the allelic frequencies of R334W (6.5%) and G542X (25%) being particular to the Portuguese population. Login to comment 32 ABCC7 p.Arg117His The most common CFTR mutations in CAVD are the F508del, R117H and the 5T allele (Chillo´n et al., 1995; De Braekeleer and Fere´c, 1996). Login to comment 92 ABCC7 p.Arg117His ABCC7 p.Arg334Trp ABCC7 p.Pro205Ser ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala ABCC7 p.Asp614Gly ABCC7 p.Val562Ile The frequency of the other mutations was: four of 62 (6.5%) for R334W, two of 62 (3.2%) for R117H, P205S and G576A, and one of 62 (1.6%) for D614G, V562I, R668C, 2789-5G ! Login to comment 93 ABCC7 p.Ser1235Arg A, S1235R, I507del and 3272-26A ! Login to comment 98 ABCC7 p.Gly542* The association of CFTR mutations with the 5T allele also did not increase the number of patients with at least one mutation detected. Overall, in the four CUAVD patients, the 5T allele and the G542X mutation were the most frequent mutations found, which accounted for two of the eight (25%) total alleles. Login to comment 104 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg334Trp ABCC7 p.Arg334Trp ABCC7 p.Arg334Trp ABCC7 p.Pro205Ser ABCC7 p.Asp614Gly ABCC7 p.Val562Ile Of the 22 NOAZ patients with conserved spermatogenesis and normal renal development, there were seven (31.8%) Table I. CFTR mutations and IVS8-5T variants found in 77 Portuguese azoospermic patients Syndromes Mutations n CFTR mutations IVS8 poly(T) variants Two mutations One mutation CBAVD F508del/R117H 1 1 - 7/9 F508del/D614G 1 1 - 7/9 R334W/R334W 1 1 - 7/7 R334W/V562I 1 1 - 5/7 R117H/P205S 1 1 - 7/7 2789 þ 5G ! Login to comment 105 ABCC7 p.Arg334Trp ABCC7 p.Pro205Ser ABCC7 p.Ser1235Arg ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala ABCC7 p.Gly576Ala A/S1235R 1 1 - 5/7 F508del/- 6 - 6 5/9 (£6) I507del/- 1 - 1 7/9 G576A-R668C/- 1 - 1 5/7 P205S/- 1 - 1 5/5 R334W/- 1 - 1 7/7 G576A/- 1 - 1 7/7 3272-26A ! Login to comment 106 ABCC7 p.Gly542* G/- 1 - 1 7/9 5T/5T 2 - - 5/5 (£2) 5T/- 2 - - 5/7 (£2) CUAVD F508del/- 1 - 1 7/9 G542X/- 2 - 2 5/9 (£2) OAZ F508del/- 1 - 1 7/9 5T/- 1 - - 5/7 NOAZ-HP 3659delC/- 1 - 1 7/7 F508del/- 1 - 1 5/9 5T/5T 1 - - 5/5 5T/- 4 - - 5/7 (£4) Severe mutations are in bold. Login to comment 109 ABCC7 p.Arg334Trp ABCC7 p.Val562Ile Studies in a CBAVD patient with the R334W/V562I and 5T/7T mutations. Login to comment 112 ABCC7 p.Arg334Trp (a) A normal individual; (b) CBAVD patient 4 with the R334W mutation in peak 15 (heterozygote genotype); (c) size standards (OLA-TAMRA). Login to comment 114 ABCC7 p.Val562Ile (a) CAVD patient with mutation V562I (heterozygote); (b) a normal individual. Login to comment 125 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg334Trp ABCC7 p.Pro205Ser ABCC7 p.Gly576Ala Contrary to all other countries, the second most frequent mutation found in Portugal was R334W (6.5%), whereas no differences from other countries were found regarding the third most frequent mutations, R117H, P205S and G576A (3.2%), with the exception of Germany regarding R117H (11%) (Dork et al., 1997). Login to comment 135 ABCC7 p.Gly542* This frequency was due to the allelic frequency of G542X (25%) in Portuguese CUAVD males, which is higher than in other countries where it was also found (7-17%), France (Je´ze´quel et al., 2000) and Spain (Casals et al., 2000). Login to comment 150 ABCC7 p.Arg334Trp ABCC7 p.Gly542* The increased allelic frequency of R334W in CBAVD (6.5%) and of G542X in CUAVD (25%) appears particular to the Portuguese population. Login to comment