ABCMdb

PMID: 16126774

Morea A, Cameran M, Rebuffi AG, Marzenta D, Marangon O, Picci L, Zacchello F, Scarpa M
Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility.
Mol Hum Reprod. 2005 Aug;11(8):607-14. Epub 2005 Aug 26., [PubMed]

Sentences

No. Mutations Sentence Comment

47 ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Gly1244Glu ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Arg352Gln ABCC7 p.Glu585* ABCC7 p.Ser549Arg ABCC7 p.Gly85Glu ABCC7 p.Ser549Asn ABCC7 p.Thr338Ile ABCC7 p.Leu1065Pro ABCC7 p.Arg1158* ABCC7 p.Met1101Lys ABCC7 p.Arg1070Gln ABCC7 p.Gln552* ABCC7 p.Asp1152His ABCC7 p.Leu1077Pro ABCC7 p.Arg1066His ABCC7 p.Asp110His ABCC7 p.Arg334Gln ABCC7 p.Ala559Thr ABCC7 p.Arg709* ABCC7 p.Asp579Gly ABCC7 p.Trp1282Arg ABCC7 p.Tyr577Phe ABCC7 p.Glu527Gly CFTR gene alterations were first scored by PCR and reverse dot blot (Chehab and Wall, 1992), targeted to the detection of the following mutations: ∆F508, G85E, 541∆C, D110H, R117H, 621+1G→T, 711+5G→A, R334W, R334Q, T338I, 1078∆T, R347H, R352Q, ∆I507, 1609∆CA, E527G, 1717-1G→A, 1717-8G→A, G542X, R347P, S549N, S549R A→C, Q552X, R553X, A559T, D579G, Y577F, E585X, 1898+3A→G, 2183AA→G, R709X, 2789+5G→A, 3132∆TG, 3272-26A→G, L1077P, L1065P, R1070Q, R1066H, M1101K, D1152H, R1158X, R1162X, 3849+10KbC→T, G1244E, W1282R, W1282X, N1303K and 4016∇T. Login to comment 76 ABCC7 p.Arg74Trp ABCC7 p.Met348Lys ABCC7 p.Asp443Tyr ABCC7 p.Arg117Cys ABCC7 p.Arg297Gln ABCC7 p.Leu997Phe ABCC7 p.Glu826Lys ABCC7 p.Asp110Tyr ABCC7 p.Glu217Gly ABCC7 p.Gly1069Arg ABCC7 p.Ser42Phe ABCC7 p.Ile556Val ABCC7 p.Gly1130Ala ABCC7 p.Ala1009Thr ABCC7 p.Val920Leu ABCC7 p.Thr1086Ala ABCC7 p.Thr582Ser ABCC7 p.Ser911Arg ABCC7 p.Trp356* ABCC7 p.Ser912Leu ABCC7 p.Tyr89Cys ABCC7 p.Met82Val ABCC7 p.Pro1290Thr ABCC7 p.Gly194Val ABCC7 p.Leu320Phe ABCC7 p.Arg352Trp ABCC7 p.Ser660Thr This test involved nine subjects from the infertile group, revealing the occurrence of the following rare mutations: E217G, T1054A, W356X, D443Y and 3667insTC in males and L997F and R297Q in females and 29 subjects from the control, in which we found: A1009T, D110Y, E826K, G1069R, G1130A, G194V, I556V, L320F, M348K, M82V, P1290T, R117C, R352W, R74W, S42F, S660T, S911R, S912L, T1086A, T582S, V920L and Y89C. Login to comment 77 ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Asp1152His All these rare mutations, having been sought only in one partner, and only in the appropriate cases, are not included in the data discussed in Tables I, II and IV. Finally, as regards the mutations found in women of the control group, who bore 5T and a CFTR mutation, these 15 subjects presented eight cases of ∆F508 and single instances of the following: R117H, G542X, W1282X, R1162X, N1303K, 2183 aa/g and D1152H. Login to comment 79 ABCC7 p.Arg117His ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly85Glu ABCC7 p.Arg1158* ABCC7 p.Gln552* ABCC7 p.Asp1152His ABCC7 p.Arg334Gln Concerning instead the mutations found in the male group, besides ∆F508 the following have been found: 2789+5 g/a, 711+5 g/a, D1152H, G85E, N1303K, Q552X, R1158X, R117H, R334Q, R334W and R553X. Login to comment 100 ABCC7 p.Arg1162* Two other cases of CBAVD are within the 11 5/9 males presenting ∆F508, and one is within the 7/7 presenting only R1162X. Login to comment 101 ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Asp1152His ABCC7 p.Arg1066His ABCC7 p.Arg334Gln ABCC7 p.Tyr577Phe Mutations Women (987) Men (867) N IVS8-T genotype N IVS8-T genotype ∆F508 16 15(7/9); 1(9/9) 26 15(7/9)*; 11(5/9) N1303K 4 4(7/9) 1 7/7 3849+10KbC→T 1 5/7 1 5/7 G542X 2 7/9 1 7/9† 2183AA→G 2 7/7 4 7/7 R553X 2 7/7 0 - R1162X 2 7/7 6 5(7/7)‡; 1(7/9) D1152H 0 - 3 2(7/7); 7/9† 711+5G→A 0 - 3 7/7 1717-8G→A 0 - 1 5/7 1717-1G→A 1 7/7 0 - Y577F 0 - 1 7/7 R117H 1 7/7 1 7/9* 621+3A→G 1 7/9 0 - W1282X 1 7/7 0 - deltaI1507 1 7/7 0 - T3381 1 7/7 1 7/9 R1066H 0 - 1 7/7§ R334Q 0 - 1 7/9 2789+5G→A 1 7/7 2 7/7‡§ Total 36¶ 53¶ records, all these mutations are normally found in trans with respect of 5T. Login to comment 108 ABCC7 p.Arg117His ABCC7 p.Arg1162* ABCC7 p.Arg1162* The three corresponding patients are therefore not included in the body of data analysed in Table I. CFTR mutation IVS8T M470V TG W356X* 5-7 G-G Not determined D443Y* 5-7 A-G 10/12 R1162X 7-7 A-G 10/11 None 7-7 A-G 10/12 ∆F508/R117H 7-9 A-A Not determined ∆F508 5-9 A-G Not determined None 5-7 A-A 11/10 R1162X/2789+5ga 7-7 A-A Not determined 3667insTCAA* 5-7 A-A 11/10 ∆F508 5-9 A-A 13/10 Table IV. Login to comment 144 ABCC7 p.Asp443Tyr ABCC7 p.Glu826Lys *Genotypes include subjects (whose number is indicated within parentheses) that carry the following CFTR mutations 2789+5G/A, E826K, ∆F508, D443Y, 3849+10Kb C/T 1717-8G/A and 3667insTCAA. Login to comment