ABCMdb

PMID: 10655317

Phillipson GT, Petrucco OM, Matthews CD
Congenital bilateral absence of the vas deferens, cystic fibrosis mutation analysis and intracytoplasmic sperm injection.
Hum Reprod. 2000 Feb;15(2):431-5., [PubMed]

Sentences

No. Mutations Sentence Comment

34 ABCC7 p.Arg117His (ii) Satisfactory reports of percutaneous epididymal sperm 7T:9T 1 aspiration (PESA) (Shrivastav et al., 1994) led to the introduction of R117H only 7T:7T 1 PESA in 1996. Login to comment 35 ABCC7 p.Arg117Cys PESA was offered as an alternative for those men R117C only 9T:9T 1 ∆F508 only 9T:9T 2preferring a less invasive procedure. Login to comment 71 ABCC7 p.Trp1282* Clinical cycle results Male cystic Nil:nil Nil:R117H or ∆F508:nil ∆F508:R117H ∆F508: Total fibrosis genotype nil:R117C W1282X detected or ∆F508: allele1:allele2 ∆F508 Couples (n) 5 2 13 5 2 27 Mean age female 33 29 31 34 26 31 partner (years) Oocyte retrieval 7 9 22 12 3 53 cycles (n) Oocytes injected (n) 69 134 199 113 43 558 Oocytes 46 102 144 85 29 406 fertilized (n) Fertilization rate (%) (67) (76) (72) (75) (67) (73) Embryo transfers 5a 9 22 12 3 51 (ET) (n) (96%) Embryos 13 25 52 29 6 125 transferred (n) (mean per ET) (2.6) (2.8) (2.4) (2.4) (2.0) (2.5) Clinical pregnancies 3 0 9 3 2 17 (n) (33%) Embryo 23 0 21 21 33 18 implantation rate (%) Embryos frozen (n) 16 9 34 21 6 86 Cycles with 4 44 10 5 2 25 embryos frozen (57) (44) (45) (42) (67) (47) (n)(% of cycles) aOne cycle had a single oocyte which failed to fertilize, and one cycle had all embryos frozen. Login to comment 77 ABCC7 p.Arg117His There is an increased prevalence of genotype expected from the pre-implantation diagnostic pro- the R117H mutation within the CBAVD population. Login to comment 79 ABCC7 p.Arg117His series, of the men with CBAVD (excluding the two with CF), At the request of the parents the CF genotypes of two six of the 25 (24%) of the CF chromosomes identified were children derived from fathers who were ∆F508 heterozygotes R117H. Login to comment 81 ABCC7 p.Arg117His Both children are R117H in those patients with classic CF and is similar to the healthy, consistent with their heterozygous genotype. Login to comment 94 ABCC7 p.Arg117His R117H occurs with twotion of CF gene mutations in both conditions. Login to comment 95 ABCC7 p.Arg117His A review of variants 5T and 7T resulting in different phenotypes although420 published cases of CBAVD indicated 19% had two mutations, 47% carried a single mutation, and in 34% no no 5T variant of R117H was identified in this series. Login to comment 103 ABCC7 p.Trp1282* However, substantially larger numbers diagnosis has been successfully used for ∆F508 and W1282X of embryos will need to be transferred before analysis of but not for the less common mutations. Login to comment 109 ABCC7 p.Gly551Asp ABCC7 p.Gly551Asp ABCC7 p.Arg117His Her genotype (G551D/R117H) carrier of a severe CF gene mutation and the female tests comprised a severe CF mutation (G551D) combined with negative for the group of mutations screened. Login to comment 110 ABCC7 p.Arg117His Therefore the R117H and the 7T allele identified on both chromosomes. Login to comment 112 ABCC7 p.Arg117His No significant congenital could be made that the R117H was present on a chromosome anomalies have been identified. Login to comment 117 ABCC7 p.Gly551Asp Sperm recovery, sperm cryopreservation, and the ICSI G551D and likely to result in a child with CF. Login to comment 119 ABCC7 p.Arg117His These couples both conceived; R117H compound heterozygotes that would be expected to however, one resulted in a miscarriage late in the first trimester, confer a mild phenotype to the child. Login to comment 121 ABCC7 p.Gly551Asp ABCC7 p.Arg117His without the ∆F508 mutation would confer a G551D or R117H Historically a few reports of fertile CF males have been heterozygote genotype. Login to comment 135 ABCC7 p.Arg117His ABCC7 p.Arg117Cys However the total number of live of either the R117H or R117C CF mutation, pregnancy did births reported remains small and continued study will be not occur despite the transfer of 25 embryos over nine cycles. Login to comment 137 ABCC7 p.Arg117His ∆F508/R117H genotypes demonstrated a satisfactory embryo implantation rate. Login to comment