ABCMdb

PMID: 9620832

Kanavakis E, Tzetis M, Antoniadi T, Pistofidis G, Milligos S, Kattamis C
Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligozoospermia.
Mol Hum Reprod. 1998 Apr;4(4):333-7., [PubMed]

Sentences

No. Mutations Sentence Comment

55 ABCC7 p.Asp565Gly Results The analysis of the entire coding sequence identified 12 different molecular defects including ∆F508, and two are novel defects (D565G and 2790-8CϾG) (Table I). Login to comment 56 ABCC7 p.Asp565Gly Of the two novel mutations, one was identified in a CBAVD case and is a missence mutation D565G, the other is a possible splicing defect 2790-8CϾG and was detected in a male with obstructive azoospermia. Login to comment 58 ABCC7 p.Leu732* Six (42.8%) had one CF mutation, and three of them with mutations ∆F508, L732X, 711ϩ3AϾG, are also 5T heterozygotes. Login to comment 64 ABCC7 p.Arg75Gln ABCC7 p.Phe1052Val ABCC7 p.Arg668Cys ABCC7 p.Asp565Gly ABCC7 p.Trp496* ABCC7 p.Leu732* Cystic fibrosis transmembrane conductance regulator (CFTR), PolyT genotypes and clinical data of men with congenital bilateral absence of the vas deferens (CBAVD, n ϭ 14), obstructive azoospermia (ObsA, n ϭ 10) and oligozoospermia (n ϭ 3) Patients Sweat chloride CFTR IVS8-polyT Other clinical (mEq/l) mutations alleles features Two mutations detected MS1 (CBAVD) 107.7 ∆F508/M1I 5T/9T Recurrent bronchitis MS6 (CBAVD) 74.5 ∆F508/711ϩ3AϾG 9T/7T Chronic cough MS19 (CBAVD) 51 W496X/F1052V 9T/9T MS24 (CBAVD) Ͻ40 D565G/R668C 7T/7T One mutation detected MS5 (CBAVD) Ͻ40 3272-26AϾG/- 7T/7T MS12 (CBAVD) Ͻ40 ∆F508/- 9T/7T MS14 (CBAVD) Ͻ40 ∆F508/- 9T/5T MS15 (CBAVD) 57.7 L732X/- 7T/5T Dehydration/recurrent bronchitis MS16 (CBAVD) Ͻ40 711ϩ3AϾG/- 7T/5T MS20 (CBAVD) Ͻ40 4010delTAT/- 7T/7T MS18 (ObsA) 48 ∆F508/- 5T/9T MS11 (ObsA) Ͻ40 R75Q/- 7T/7T MS23 (ObsA) Ͻ40 2790-8CϾG/- 7T/7T No mutation detected MS7 (CBAVD) Ͻ40 -/- 7T/7T MS10 (CBAVD) Ͻ40 -/- 7T/7T MS21 (CBAVD) Ͻ40 -/- 7T/9T MS28 (CBAVD) Ͻ40 -/- 7T/7T MS2 (ObsA) 54.2 -/- 7T/7T MS8 (ObsA) Ͻ40 -/- 7T/7T MS17 (ObsA) 50 -/- 7T/7T MS22 (ObsA) Ͻ40 -/- 7T/9T MS25 (ObsA) Ͻ40 -/- 7T/7T MS26 (ObsA) Ͻ40 - / - 7T/7T MS27 (ObsA) Ͻ40 -/- 7T/7T MS3 (oligozoospermia) 50 -/- 7T/7T MS4 (oligozoospermia) Ͻ40 -/- 7T/7T MS13 (oligozoospermia) Ͻ40 -/- 7T/7T Table II. Login to comment 81 ABCC7 p.Arg668Cys ABCC7 p.Asp565Gly No mutation, except for ∆F508, was prevalent in individuals in this study and all of the mutations found in the CBAVD patients, except for the novel D565G and mutation R668C, have also been found in Greek CF patients (Tzetis et al., 1977). Login to comment 82 ABCC7 p.Asp565Gly The novel missence mutation D565G has not been detected in Ͼ250 CF chromosomes, nor in Ͼ100 non-CF chromosomes that we have examined. Login to comment 83 ABCC7 p.Asp565Gly The substitution produced by mutation D565G involves a change of a positively charged for a polar uncharged amino acid in exon 12 of the gene. Login to comment 85 ABCC7 p.Arg668Cys R668C was initially reported as a polymorphism but has since been reported as a mutation in cases of disseminated bronchiectasis (DB) and in CBAVD (Chillon et al., 1995; Pignatti et al., 1996). Login to comment 90 ABCC7 p.Leu732* Patient MS15 (L732X/-) who is also heterozygous for the 5T allele and thus could be considered to be a CF compound heterozygote, had a severe dehydration episode and few gastrointestinal manifestations of CF. Login to comment