PMID: 10376575

Mak V, Zielenski J, Tsui LC, Durie P, Zini A, Martin S, Longley TB, Jarvi KA
Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia.
JAMA. 1999 Jun 16;281(23):2217-24., 1999-06-16 [PubMed]
Sentences
No. Mutations Sentence Comment
28 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 10376575:28:133
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10376575:28:161
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 10376575:28:189
status: NEW
view ABCC7 p.Ala455Glu details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 10376575:28:118
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 10376575:28:148
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 10376575:28:182
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 10376575:28:196
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Arg347His
X
ABCC7 p.Arg347His 10376575:28:263
status: NEW
view ABCC7 p.Arg347His details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 10376575:28:140
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10376575:28:126
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 10376575:28:203
status: NEW
view ABCC7 p.Arg1162* details
ABCC7 p.Gln493*
X
ABCC7 p.Gln493* 10376575:28:280
status: NEW
view ABCC7 p.Gln493* details
ABCC7 p.Val520Phe
X
ABCC7 p.Val520Phe 10376575:28:175
status: NEW
view ABCC7 p.Val520Phe details
ABCC7 p.Ser549Arg
X
ABCC7 p.Ser549Arg 10376575:28:218
status: NEW
view ABCC7 p.Ser549Arg details
ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 10376575:28:155
status: NEW
view ABCC7 p.Gly85Glu details
ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 10376575:28:168
status: NEW
view ABCC7 p.Ser549Asn details
ABCC7 p.Tyr122*
X
ABCC7 p.Tyr122* 10376575:28:211
status: NEW
view ABCC7 p.Tyr122* details
ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 10376575:28:256
status: NEW
view ABCC7 p.Arg560Thr details
Analysis for 31 of the most common CFTR mutations found within the white CF population,60 consisting of ⌬F508, W1282X, G542X, G551D, N1303K, R553X, G85E, R117H, S549N, V520F, R334W, A455E, R347P, R1162X, Y122X, S549R, 621+1G→T, ⌬I507, R560T, R347H, 3659delC, Q493X, 1898+1G→T, 711+1G→T, 3849+10C→T, 1717-1G→A, 3849+4A→G, 3905insT, 1078delT, 2183AA→G, and 2789+5G→A. Briefly, the technique involved amplification by polymerase chain reaction61 of the relevant exons, followed by digestion with appropriate restriction endonucleases and acrylamide gel electrophoresis with ethidium bromide staining. Login to comment
35 ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10376575:35:32
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10376575:35:188
status: NEW
view ABCC7 p.Gly542* details
Two CFTR mutations(⌬F508,G542X)wereidentifiedby analysisusingthe31CFTRmutationpanel (TABLE2).TheIVS8-5Tvariantwasiden- tifiedin5alleles.Twomutations(theiden- tical ⌬F508 and G542X mutations detected by the 31 mutation panel) were identifiedthroughscreeningofallCFTR exons and splice sites. Login to comment
39 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10376575:39:83
status: NEW
view ABCC7 p.Arg117His details
The mutation most frequently identified was ⌬F508 (23 alleles), followed by R117H (9 alleles). Login to comment
45 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10376575:45:123
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10376575:45:355
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10376575:45:361
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10376575:45:375
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10376575:45:808
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 10376575:45:135
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 10376575:45:709
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 10376575:45:772
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 10376575:45:335
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 10376575:45:341
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 10376575:45:397
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 10376575:45:419
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10376575:45:695
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Val754Met
X
ABCC7 p.Val754Met 10376575:45:234
status: NEW
view ABCC7 p.Val754Met details
ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 10376575:45:171
status: NEW
view ABCC7 p.Leu206Trp details
ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 10376575:45:756
status: NEW
view ABCC7 p.Leu206Trp details
ABCC7 p.Ser549Arg
X
ABCC7 p.Ser549Arg 10376575:45:321
status: NEW
view ABCC7 p.Ser549Arg details
ABCC7 p.Gly544Ser
X
ABCC7 p.Gly544Ser 10376575:45:185
status: NEW
view ABCC7 p.Gly544Ser details
ABCC7 p.Asp979Ala
X
ABCC7 p.Asp979Ala 10376575:45:490
status: NEW
view ABCC7 p.Asp979Ala details
ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 10376575:45:289
status: NEW
view ABCC7 p.Arg75Gln details
ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 10376575:45:724
status: NEW
view ABCC7 p.Arg75Gln details
ABCC7 p.Pro67Leu
X
ABCC7 p.Pro67Leu 10376575:45:276
status: NEW
view ABCC7 p.Pro67Leu details
ABCC7 p.Met952Thr
X
ABCC7 p.Met952Thr 10376575:45:220
status: NEW
view ABCC7 p.Met952Thr details
ABCC7 p.Arg117Leu
X
ABCC7 p.Arg117Leu 10376575:45:468
status: NEW
view ABCC7 p.Arg117Leu details
ABCC7 p.Arg258Gly
X
ABCC7 p.Arg258Gly 10376575:45:294
status: NEW
view ABCC7 p.Arg258Gly details
(%) Men With 2 Mutations ⌬F508/IVS8-5T 7 (11) ⌬F508/IVS8-5T 1 (10) ⌬F508/IVS8-5T 1 (1.8) ⌬F508/R117H 6 (9) W1282X/IVS8-5T 1 (1.8) ⌬F508/L206W 1 (1.6) G544S/IVS8-5T 1 (1.8) ⌬F508/M952T 1 (1.6) V754M/-741T→G 1 (1.8) ⌬F508/P67L 1 (1.6) R75Q/R258G 1 (1.8) ⌬F508/S549R 1 (1.6) R334W/R334W 1 (1.6) R117H/R117H 1 (1.6) R117H/IVS8-5T 1 (1.6) R347P/IVS8-5T 1 (1.6) N1303K/IVS8-5T 1 (1.6) 1677delTA/IVS8-5T 1 (1.6) R117L/IVS8-5T 1 (1.6) D979A/IVS8-5T 1 (1.6) IVS8-5T/IVS8-5T 1 (1.6) Men With 1 Mutation IVS8-5T/N 10 (16) ⌬F508/N 1 (10) IVS8-5T/N 9 (16) ⌬F508/N 1 (2) ⌬F508/N 6 (9) IVS8-5T/N 1 (10) ⌬F508/N 1 (1.8) G542X/N 1 (2) W1282X/N 2 (3) R75Q/N 1 (1.8) IVS8-5T/N 5 (10) L206W/N 1 (1.6) W1282X/N 1 (1.8) 4016insT/N 1 (1.6) R117H/N 1 (1.8) 2423delG/N 1 (1.8) Men With No Mutations 18 (28) 7 (70) 37 (66) 42 (86) *N indicates that no CFTR mutations or variants were detected. Login to comment
47 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 10376575:47:20
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 10376575:47:40
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 10376575:47:77
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 10376575:47:99
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Ser549Arg
X
ABCC7 p.Ser549Arg 10376575:47:59
status: NEW
view ABCC7 p.Ser549Arg details
tion panel included W1282X (2 alleles), R334W (2 alleles), S549R (1 allele), R347P (1 allele), and N1303K (1 allele). Login to comment
50 ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 10376575:50:148
status: NEW
view ABCC7 p.Leu206Trp details
ABCC7 p.Asp979Ala
X
ABCC7 p.Asp979Ala 10376575:50:237
status: NEW
view ABCC7 p.Asp979Ala details
ABCC7 p.Asp979Ala
X
ABCC7 p.Asp979Ala 10376575:50:341
status: NEW
view ABCC7 p.Asp979Ala details
ABCC7 p.Pro67Leu
X
ABCC7 p.Pro67Leu 10376575:50:182
status: NEW
view ABCC7 p.Pro67Leu details
ABCC7 p.Arg117Leu
X
ABCC7 p.Arg117Leu 10376575:50:199
status: NEW
view ABCC7 p.Arg117Leu details
Of the 8 additional CFTR gene sequence alterations detected using extensive CFTR exon screening, 5 have been described rarely in the CF population (L206W [identified in 2 subjects], P67L, 1677delTA, R117L, and 4016insT).60 One mutation, D979A, was previously identified in a Vietnamese CBAVD patient.60 Interestingly, our CBAVD subject with D979A (also a carrier of IVS8-5T) was of Vietnamese descent as well. Login to comment
51 ABCC7 p.Met952Thr
X
ABCC7 p.Met952Thr 10376575:51:4
status: NEW
view ABCC7 p.Met952Thr details
The M952T mutation is a previously unreported, novel mutation. Login to comment
58 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10376575:58:111
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10376575:58:165
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10376575:58:359
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10376575:58:426
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 10376575:58:123
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 10376575:58:150
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 10376575:58:371
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 10376575:58:411
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 10376575:58:179
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 10376575:58:440
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 10376575:58:207
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 10376575:58:468
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 10376575:58:221
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 10376575:58:482
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10376575:58:138
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 10376575:58:386
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Val754Met
X
ABCC7 p.Val754Met 10376575:58:698
status: NEW
view ABCC7 p.Val754Met details
ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 10376575:58:497
status: NEW
view ABCC7 p.Leu206Trp details
ABCC7 p.Ser549Arg
X
ABCC7 p.Ser549Arg 10376575:58:193
status: NEW
view ABCC7 p.Ser549Arg details
ABCC7 p.Ser549Arg
X
ABCC7 p.Ser549Arg 10376575:58:454
status: NEW
view ABCC7 p.Ser549Arg details
ABCC7 p.Gly544Ser
X
ABCC7 p.Gly544Ser 10376575:58:586
status: NEW
view ABCC7 p.Gly544Ser details
ABCC7 p.Asp979Ala
X
ABCC7 p.Asp979Ala 10376575:58:776
status: NEW
view ABCC7 p.Asp979Ala details
ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 10376575:58:519
status: NEW
view ABCC7 p.Arg75Gln details
ABCC7 p.Pro67Leu
X
ABCC7 p.Pro67Leu 10376575:58:565
status: NEW
view ABCC7 p.Pro67Leu details
ABCC7 p.Met952Thr
X
ABCC7 p.Met952Thr 10376575:58:816
status: NEW
view ABCC7 p.Met952Thr details
ABCC7 p.Arg117Leu
X
ABCC7 p.Arg117Leu 10376575:58:676
status: NEW
view ABCC7 p.Arg117Leu details
ABCC7 p.Arg258Gly
X
ABCC7 p.Arg258Gly 10376575:58:796
status: NEW
view ABCC7 p.Arg258Gly details
(%) 31 Mutation panel† ⌬F508 23 (18) ⌬F508 2 (10) ⌬F508 2 (1.8) ⌬F508 1 (1) R117H 9 (7) W1282X 2 (1.8) G542X 1 (1) W1282X 2 (1.6) R117H 1 (0.9) R334W 2 (1.6) S549R 1 (0.8) R347P 1 (0.8) N1303K 1 (0.8) Extensive screen† ⌬F508 23 (18) ⌬F508 2 (10) ⌬F508 2 (1.8) ⌬F508 1Mutations included in R117H 9 (7) W1282X 2 (1.8) G542X 131 mutation panel W1282X 2 (1.6) R117H 1 (0.9) R334W 2 (1.6) S549R 1 (0.8) R347P 1 (0.8) N1303K 1 (0.8) L206W 2 (1.6)‡ R75Q 2 (1.8)‡Mutations not included in P67L 1 (0.8)‡ G544S 1 (0.9)‡31 mutation panel 1677delTA 1 (0.8)‡ 2423delG 1 (0.9)‡ R117L 1 (0.8)‡ V754M 1 (0.9)‡ 4016insT 1 (0.8)‡ -741T→G 1 (0.9)‡ D979A 1 (0.8)§ R258G 1 (0.9)§ M952T 1 (0.8)¶ IVS8-5T 25 (20)# 2 (10) 12 (11) 5 (5) Detectable mutations 72 (56)# 4 (20) 24 (21)# 7 (7) Detectable mutations missed by 31 mutation panel 33 (46) 2 (50) 19 (79) Detectable non-IVS8-5T mutations missed by 31 mutation panel 8 (17) 0 (0) 7 (58) *Percentages indicate allele frequency. Login to comment
70 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10376575:70:198
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 10376575:70:174
status: NEW
view ABCC7 p.Trp1282* details
Of the 56 subjects with idiopathic epididymal obstruction, analysis using the 31 mutation panel resulted in the identification of 5 mutant alleles: ⌬F508 (2 alleles), W1282X (2 alleles), and R117H (1 allele) (Table 2). Login to comment
73 ABCC7 p.Val754Met
X
ABCC7 p.Val754Met 10376575:73:48
status: NEW
view ABCC7 p.Val754Met details
ABCC7 p.Gly544Ser
X
ABCC7 p.Gly544Ser 10376575:73:31
status: NEW
view ABCC7 p.Gly544Ser details
ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 10376575:73:153
status: NEW
view ABCC7 p.Arg75Gln details
ABCC7 p.Arg258Gly
X
ABCC7 p.Arg258Gly 10376575:73:115
status: NEW
view ABCC7 p.Arg258Gly details
Of the 7 additional mutations, G544S, 2423delG, V754M, and -741T→G are associated with the CF phenotype and R258G with the CBAVD phenotype, while R75Q (identified in 2 subjects), previously thought to be a benign polymorphism, may in fact confer phenotypic features of CF.2 Therefore, of the 24 alleles with CFTR mutations in men with idiopathic epididymal obstruction, 5 (21%) were identified by routine CFTR mutation analysis, 12 (50%) by IVS8-5T allele-specificoligonucleotideanalysis,and 12 (50%) by complete analysis of all CFTR exons. Login to comment
83 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 10376575:83:139
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 10376575:83:147
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Val754Met
X
ABCC7 p.Val754Met 10376575:83:207
status: NEW
view ABCC7 p.Val754Met details
ABCC7 p.Ser549Arg
X
ABCC7 p.Ser549Arg 10376575:83:155
status: NEW
view ABCC7 p.Ser549Arg details
ABCC7 p.Gly544Ser
X
ABCC7 p.Gly544Ser 10376575:83:190
status: NEW
view ABCC7 p.Gly544Ser details
ABCC7 p.Arg117Leu
X
ABCC7 p.Arg117Leu 10376575:83:173
status: NEW
view ABCC7 p.Arg117Leu details
These severe CFTR gene mutations are associated with pancreatic insufficiency and are generally class 1 through 3 mutations: ⌬F508, W1282X, N1303K, S549R, 1677delTA, R117L, 4016insT, G544S, 2423delG, V754M, and 741T→G. Login to comment
85 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10376575:85:118
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 10376575:85:125
status: NEW
view ABCC7 p.Arg334Trp details
ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 10376575:85:132
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Leu206Trp
X
ABCC7 p.Leu206Trp 10376575:85:139
status: NEW
view ABCC7 p.Leu206Trp details
ABCC7 p.Met952Thr
X
ABCC7 p.Met952Thr 10376575:85:439
status: NEW
view ABCC7 p.Met952Thr details
ABCC7 p.Arg258Gly
X
ABCC7 p.Arg258Gly 10376575:85:428
status: NEW
view ABCC7 p.Arg258Gly details
These mild CFTR gene mutations are associated with pancreatic sufficiency and tend to be class 4 through 5 mutations: R117H, R334W, R347P, L206W,andP67L.Thethirdgroupcon- sists of mutations identified exclusively in some men with obstructive azoospermia; however, because these sequencealterationsareextremelyrare, it is only speculated that they contribute to this phenotype.7,10,12 These CFTR genesequencechangesincludeD979A, R258G, and M952T. Login to comment
86 ABCC7 p.Asp979Ala
X
ABCC7 p.Asp979Ala 10376575:86:14
status: NEW
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ABCC7 p.Asp979Ala
X
ABCC7 p.Asp979Ala 10376575:86:125
status: NEW
view ABCC7 p.Asp979Ala details
As mentioned, D979A has been previously detected in a Vietnamese man with CBAVD,60 and interestingly, our CBAVD subject with D979A was also of Vietnamese descent. Login to comment
87 ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 10376575:87:130
status: NEW
view ABCC7 p.Arg75Gln details
ThefourthgroupconsistsofCFTRgene alterations that were formerly considered to be benign sequence variations.7,12,14 These include R75Q and IVS8-5T. Login to comment
90 ABCC7 p.Ser549Arg
X
ABCC7 p.Ser549Arg 10376575:90:47
status: NEW
view ABCC7 p.Ser549Arg details
Except for 1 subject who had the ⌬F508/ S549R genotype, all 32 (25%) of 130 men with 2 mutant CFTR alleles carried at least 1 mild class 4 or 5 mutation. Login to comment