ABCMdb

PMID: 16272798

Uzun S, Gokce S, Wagner K
Cystic fibrosis transmembrane conductance regulator gene mutations in infertile males with congenital bilateral absence of the vas deferens.
Tohoku J Exp Med. 2005 Dec;207(4):279-85., [PubMed]

Sentences

No. Mutations Sentence Comment

13 ABCC7 p.Arg117His The most common mutation was ΔF508 with a frequency of 43% (6/14), followed by R117H with 29% (4/14). Login to comment 27 ABCC7 p.Arg117His In CBAVD patients, ΔF508 is the most common CFTR gene mutation and the second common mutation is a missense change, R117H (Gervais et al. 1993; Casals et al. 1995; Mercier et al. 1995). Login to comment 28 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg74Trp ABCC7 p.Gly85Glu ABCC7 p.Asp1152His ABCC7 p.Met952Ile Other CF mutations, G542X, G551D, D1152H, M470W, R334W, R74W, M952I, W1282X, N1303K, and G85E, are known to be involved in CBAVD etiology (Wang et al. 2002; Danziger et al. 2004). Login to comment 34 ABCC7 p.Arg117His ABCC7 p.Gly542* ΔF508 and G542X are known as severe alleles and R117H as a mild allele. Login to comment 35 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Asp1152His Homozygosity of a mild allele or compound heterozygosity of mutant alleles, such as R117H/D1152H (mild/mild) or R117H/ΔF508 (mild/severe), could cause a mild form of CF (Dean et al. 1990; Kerem et al. 1990; Pignatti 1994) or male infertility without other clinical signs (Gervais et al. 1993; Oates and Amos 1993). Login to comment 58 ABCC7 p.Arg117His Second common mutation R117H allele frequency was found in 4/14 CF alleles (29%). Login to comment 60 ABCC7 p.Arg117His ABCC7 p.Met952Ile The genotypes of two compound heterozygotes were ΔF508/R117H and ΔF508/M952I. Login to comment 62 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His The genotypes of 3 patients with R117H mutation were one homozygote R117H/R117H and two compound heterozygotes, R117H/621+1 G- > T and R117H/ΔF508. Login to comment 63 ABCC7 p.Gly542* ABCC7 p.Asp1152His The remaining two patients were heterozygous for the nonsense mutation G542X and missense mutation D1152H (Table 1). Login to comment 73 ABCC7 p.Arg117His The patient is a compound heterozygote with a mild missense mutation R117H. Login to comment 74 ABCC7 p.Arg117His R117H Mutation. A G to A transition at nucleotide position 482 in the coding region of exon 4. Login to comment 76 ABCC7 p.Arg117His ABCC7 p.Arg117His This mutation was found in 4 of 44 alleles in 3 patients; one case is homozygote and other two are compound heterozygotes of R117H/621+1 G- > T and R117H/ ΔF508. Login to comment 84 ABCC7 p.Arg117His Exon 10 Exon 4 Exon 11 Exon 15 Exon 18 Genotype 1440 ΔF508 mut. het R117H Missense mutation, het. Login to comment 85 ABCC7 p.Arg117His ABCC7 p.Arg117His ΔF508 / R117H 1474 R117H Missense mutation, hom. Login to comment 86 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His R117H / R117H 1628 R117H Missense mut., het. Login to comment 88 ABCC7 p.Arg117His ABCC7 p.Asp1152His R117H / 621 + 1 G- > T 1635 D1152H Missense mutation, het. Login to comment 89 ABCC7 p.Gly542* ABCC7 p.Asp1152His D1152H / -- 1725 ΔF508 mut. het ΔF508 / -- 1827 G542X Nonsense mutation, het. Login to comment 90 ABCC7 p.Gly542* ABCC7 p.Met952Ile G542X / -- 1879 ΔF508 mut. het ΔF508 / -- 2097 ΔF508 mut. het ΔF508 / -- 2162 ΔF508 mut. het M952I Missense mutation, het. Login to comment 91 ABCC7 p.Met952Ile ΔF508 / M952I 2448 ΔF508 mut. het ΔF508 / -- het, heterozygote; hom, homozygote; mut, mutation. Login to comment 92 ABCC7 p.Gly542* G542X Mutation. A G to T transversion at nucleotide position 1756 in exon 11 generates a nonsense mutation. Login to comment 95 ABCC7 p.Met952Ile M952I Mutation. A missense mutation caused by a G to C transversion at nucleotide 2988 in exon 15. Login to comment 97 ABCC7 p.Met952Ile This mutation was found on one allele; the patient is a compound heterozygote of M952I/ΔF508. Login to comment 98 ABCC7 p.Asp1152His D1152H Mutation. A missense mutation caused by a G to C transversion at nucleotide 3586 in exon 18. Login to comment 109 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Met952Ile The genotypes R117H/R117H (homozygosity of mild/mild), ΔF508/M952I and ΔF508/ R117H (compound heterozygosity of severe/ mild), R117H/621+1 G- > T (compound heterozygosity of mild/mild) (Table 1) are known to cause male infertility with CBAVD but without CF clinical signs (Gervais et al. 1993; Oates and Amos 1993). Login to comment 110 ABCC7 p.Arg117His The compound heterozygous status ΔF508/R117H is a genotype that occurs commonly in CBAVD patients (Wang et al. 2002). Login to comment