ABCMdb

PMID: 20021716

Gallati S, Hess S, Galie-Wunder D, Berger-Menz E, Bohlen D
Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners.
Reprod Biomed Online. 2009 Nov;19(5):685-94., [PubMed]

Sentences

No. Mutations Sentence Comment

67 ABCC7 p.Arg117His In CAVD patients and azoospermic men without CAVD, respectively, the most common mutation was F508del (18.0% and 7.3%) followed by the mild mutations 5T (16.0% and 6.0%) and R117H (8.0% and 1.3%). Login to comment 69 ABCC7 p.Ser1235Arg The missense mutation S1235R was not detected in 50 alleles of CAVD patients, and was also very rarely found in classic CF patients (1/ 1164 alleles) and controls (1/192 alleles), but turned out to be the third most common mutation in azoospermic men without CAVD (3/232), in oligospermic men (3/338) and in female partners (3/140). Login to comment 81 ABCC7 p.Val754Met ABCC7 p.Ile148Thr ABCC7 p.Ser1235Arg ABCC7 p.Asp1152His ABCC7 p.Val920Met ABCC7 p.Gln1352His In 70 women whose partners had tested positive for either CFTR mutations or 5T alleles, extended screening of the CFTR gene was also performed revealing a mutation spectrum similar to that of oligospermic men including four 5T alleles, three S1235R, three F508del and one I148T, V754M, V920M, D1152H, 3905insT and Q1352H each (Table 1). Login to comment 99 ABCC7 p.Val754Met ABCC7 p.Val754Met ABCC7 p.Val754Met ABCC7 p.Ile148Thr ABCC7 p.Ile148Thr ABCC7 p.Ile148Thr ABCC7 p.Ser1235Arg ABCC7 p.Ser1235Arg ABCC7 p.Ser1235Arg ABCC7 p.Ser1235Arg ABCC7 p.Ser1235Arg ABCC7 p.Ser1235Arg ABCC7 p.Ser1235Arg ABCC7 p.Ser1235Arg ABCC7 p.Ser1235Arg ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Phe1052Val ABCC7 p.Phe1052Val ABCC7 p.Phe1052Val ABCC7 p.Gln1352His ABCC7 p.Gln1352His ABCC7 p.Gln1352His ABCC7 p.Ser13Tyr ABCC7 p.Ser13Tyr Couple no. Infertile male CFTR mutation Female partner CFTR mutation Offspring genotype Risk for genotype (%) 01 F508del/wt azoospermia F508del/wt F508del/ F508del 25 F508del/wt 50 wt/wt 25 02 F508del/T5 CAVD F508del/wt F508del/ F508del 25 F508del/T5 25 F508del/wt 25 T5/wt 25 03 F508del/S13Ya azoospermia T5/wt F508del/T5 25 S13Y/T5 25 F508del/wt 25 S13Y/wt 25 04 I148T/wt oligospermia F508del/wt F508del/ I148T 25 I148T/wt 25 F508del/wt 25 wt/wt 25 05 1717À1G>A/wt oligospermia T5/wt 1717À1G>A/ T5 25 1717À1G>A/ wt 25 T5/wt 25 wt/wt 25 06 T5/wt oligospermia 3905insT/wt 3905insT/T5 25 3905insT/wt 25 T5/wt 25 wt/wt 25 07 T5/wt azoospermia D1152H/wt D1152H/T5 25 D1152H/wt 25 T5/wt 25 wt/wt 25 08 T5/F1052V oligospermia S1235R/wt F1052V/ S1235R 25 S1235R/T5 25 F1052V/wt 25 T5/wt 25 09 S1235R/wt oligospermia T5/wt S1235R/T5 25 S1235R/wt 25 T5/wt 25 wt/wt 25 10, 11 T5/wt oligospermia S1235R/wt S1235R/T5 25 S1235R/wt 25 T5/wt 25 wt/wt 25 12 V754M/wt oligospermia T5/wt V754M/T5 25 V754M/wt 25 T5/wt 25 wt/wt 25 13 T5/wt oligospermia Q1352H/wt Q1352H/T5 25 Q1352H/wt 25 T5/wt 25 wt/wt 25 (continued on next page)(continued) female partner is a carrier. Login to comment 113 ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Ser1235Arg The three most common mutations are F508del (65.00%), 3905insT (4.81%) and R553X (3.78%) in the CF patient cohort, F508del (18.00%), 5T (16.00%) and R117H (8.00%) in CAVD patients and 5T (4.56%), F508del (3.68%) and S1235R (1.05%) in infertile non-CAVD men, exemplifying the disease specificity of the mutation patterns illustrated in Table 1. Login to comment 117 ABCC7 p.Val754Met ABCC7 p.Val754Met ABCC7 p.Val754Met ABCC7 p.Val754Met ABCC7 p.Val754Met ABCC7 p.Ile148Thr ABCC7 p.Ile148Thr ABCC7 p.Ile148Thr ABCC7 p.Arg31Cys ABCC7 p.Arg31Cys ABCC7 p.Arg31Cys ABCC7 p.Arg31Cys ABCC7 p.Arg31Cys ABCC7 p.Arg31Cys ABCC7 p.Val920Met ABCC7 p.Val920Met ABCC7 p.Val920Met Based on discriminant analysis, this study predicts a high probability for the presence of CFTR mutations especially in patients with reduced ejaculate volumes (<3 ml) and structural abnormalities such as CAVD, inguinal hernia, hypotrophic testes or cryptorchidism, confirming former findings reported by Casals et al. (2000) and representing symptoms that are also frequently observed in Table 3 (continued) Couple no. Infertile male CFTR mutation Female partner CFTR mutation Offspring genotype Risk for genotype (%) 14 R31C/wt oligospermia V920M/wt R31C/V920M 25 R31C/wt 25 V920M/wt 25 wt/wt 25 15 R31C/wt azoospermia I148T/wt R31C/I148T 25 R31C/wt 25 I148T/wt 25 wt/wt 25 16 V754M/wt oligospermia V754M/wt V754M/V754M 25 V754M/wt 50 wt/wt 25 Bold = mutations associated with classic cystic fibrosis; italic = mutations associated with a mild or uncertain, unpredictable phenotype; CAVD = congenital absence of the vas deferens; wt = wildtype allele. Login to comment