ABCMdb

PMID: 15644056

Mennicke K, Klingenberg RD, Bals-Pratsch M, Diedrich K, Schwinger E
Rational approach to genetic testing of cystic fibrosis (CF) in infertile men.
Andrologia. 2005 Feb;37(1):1-9., [PubMed]

Sentences

No. Mutations Sentence Comment

13 ABCC7 p.Arg117His A total of 282 infertile male patients were screened for the most common CF mutations (DF508, R117H, IVS8-5T). Login to comment 15 ABCC7 p.Arg117His We identified 23 patients carrying mutations in the CF gene (DF508: 10 patients; R117H: six patients; IVS8-5T: 11 patients). Login to comment 16 ABCC7 p.Arg117His Two patients were compound heterozygote for DF508/R117H, two others for DF508/IVS8-5T. Login to comment 20 ABCC7 p.Arg117His In Germany, DF508/R117H represents the most common CFTR phenotype among CBAVD (Do¨rk et al., 1997). Login to comment 48 ABCC7 p.Arg117His The three most frequent CFTR mutations (DF508, R117H, IVS8-5T) causing CBAVD in the German population were analysed. Login to comment 49 ABCC7 p.Gly551Asp ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* In the presence of CFTR mutations, further genetic screening for the seven most frequently identified CF mutations [G542X, N1303K, 1717-1(GoA), W1282X, G551D, R553X, DI507; The Cystic Fibrosis Analysis Consortium, 1990] was performed. Login to comment 51 ABCC7 p.Arg347Pro Two further mutations common in CBAVD were screened as well (mutation R347P: primers used: forward: 5' -ACA CTG GTA CTT TCA TTG T-3' ; reverse: 5' -AGA GAA ATG CTA GGA AAA G-3' : the presence of the mutation destroys a HhaI restriction site and creates an NcoI site; Dean et al., 1990; mutation 3849 + 10 kb: primers used: forward: 5' -TTG ATC TGT CAT CTT GAT TTC-3' ; reverse: 5' -CAT TTT AAT ACT GCA ACA GAT-3' , followed by a HphI digestion; Highsmith et al., 1994). Login to comment 53 ABCC7 p.Arg117His R117H was identified by mismatch primers used by Rave-Harel et al. (1995) (117-CFTR-F: 5' -ACC CGG ATA ACA AGG AGG AG-3' ; 117-CFTR-R: 5' -TTG TAC CAG CTC ACT ACC TA-3' ) followed by digestion with the restriction endonuclease HaeII. Login to comment 76 ABCC7 p.Arg117His Four patients carried compound heterozygote mutations (two patients: DF508/R117H; two patients: DF508/ IVS8-5T). Login to comment 77 ABCC7 p.Arg117His Nine DF508 (1.9% of the analysed chromosomes), six R117H (1.3% of the analysed chromosomes) and 10 IVS8-5T (2.1% of the analysed chromosomes) were identified. Login to comment 80 ABCC7 p.Arg117His ABCC7 p.Arg117His One of these was a compound heterozygote (sweat chloride: 46 mmol/l: DF508/R117H), while the other three patients (sweat chloride: 50 mmol/l: DF508/WT; 60 mmol/l: R117H/WT; and 54 mmol/l: IVS8-5T/WT) were heterozygous with regard to CFTR mutations. Login to comment 82 ABCC7 p.Arg117His ABCC7 p.Arg117His Twenty-seven of the 78 azoospermic Table1ClinicaldataandhistoryofpatientswithidentifiedCFTRmutationslistedaccordingtomutationandspermcount Patient no.Age BMI (kgm)2 )MedicalhistoryReproductivehistory CFTR mutation (n=23) Spermcount (millionml)1 ) Ejaculate volume (ml) Ejaculate pH Total testicular volume(ml) Sweat chloride (mmol/l) FSH (Ul)1 ) LH (Ul)1 ) Testosterone (nmol/l) 14125.2NormalNormalDF508/R117H00.16.531.4n.a.5.13.015.6 23127.3Normals.p.Cryptorchismand orchidopexia,1972 DF508/R117H00.56.824.94610.03.014.7 33330.4Normals.p.Ligationofvaricocele; CBAVDknown DF508/IVS8-5T00.66.525.2n.a.3.53.26.9 43525.8Onedaughter(spontaneous conception)CFTR screeningnegative s.p.Orchitis,1965;s.p. epididymitis,1993;sincethen knownazoospermia DF508/WT03.88.315.0247.50.57.0 53427.0RecurrentURTinfectionss.p.Cryptorchismand unilateralseminoma,1975 DF508/WT07.17.917.12313.04.011.5 63827.7RecurrentURTinfectionss.p.Urethritisand pyelonephritis,1972 DF508/WT00.7n.a.18.9503.53.08.2 73929.4Recurrentpancreatitiss.p.Hernia,1968and1975R117H/WT01.38.737.8604.23.79.9 84621.7NormalNormalR117H/WT00.36.516.63615.07.410.4 93837.0Normals.p.Cryptorchismand orchidopexia,1965 IVS8-5T/WT03.4n.a.15.4n.a.11.24.812.2 104325.8RecurrentURTinfections inadolescence s.p.Cryptorchism,1965; s.p.epididymitis,2000 IVS8-5T/WT2(total)5.58.117.6n.a.8.61.719.2 113326.0NormalNormalDF508/IVS8-5T3.36.5n.a.12.6n.a.8.33.518.4 123921.9Normals.p.Ligationofvaricocele,1996DF508/WT16.66.67.922.1n.a.7.34.527.8 135127.1Spontaneousconception in1993 s.p.Mumpsorchitis,1986DF508/WT0.10.89.017.8n.a.2.57.819.2 144027.9NormalNormalDF508/WT1.52.37.99.3n.a.1.80.84.3 153523.4s.p.Steroidabuses.p.Ligationofvaricocele,1993; s.p.STD,1997 R117H/WT0.45.58.319.120/389.25.017.4 163224.3Normals.p.Cryptorchismand orchidopexia,1973and1977 R117H/WT0.72.1n.a.14.82010.81.715.2 173127.7Normals.p.Cryptorchismand orchidopexia,1974 IVS8-5T/WT2.53.37.916.51813.24.3288 183627.4Normals.p.Hernia,1992IVS8-5T/WT13.42.68.124.9355.43.713.9 193227.1Normals.p.Bilateralorchidopexia,1979IVS8-5T/WT1.60.89.026.9548.92.714.3 203824.2Normals.p.Hernia,1980;s.p.ligation ofvaricocele,1990 IVS8-5T/WT3.34.07.921.5n.a.5.43.418.7 214120.8NormalNormalIVS8-5T/WT2.81.6n.a.16.2n.a.5.83.613.2 223328.5NormalNormalIVS8-5T/WT624.68.117.8n.a.6.61.67.6 233123.0Knownmaternal Robertsontranslocation s.p.Mumpsorchitis,1980IVS8-5T/WT0.93.28.020.2n.a.10.43.920.2 BMI,bodymassindex;CBAVD,congenitalbilateralabsenceofthevasdeferens;CFTR,cysticfibrosistransmembraneconductanceregulator;FSH,follicule-stimulatinghormone;LH,luteinizinghormone;n.a., notavailable;s.p.,statuspost;STD,sexuallytransmitteddisease;URT,upperrespiratorytractinfection;WT,wildtype.Normalvalues:spermcount:>20millionml)1 ;ejaculatevolume:‡2ml;ejaculatepH: ‡7.2and£8.0;totaltesticularvolume:‡15ml;sweatchlorideconcentration:normal:<30mmol/l,borderline:30-60mmol/l,pathological:>60mmo/l;FSH:<15Ul)1 ;LH:2.0-10.0Ul)1 ;testosterone:12.030.0nmol/l.Patients22and23arenotincludedinfurtheranalysis(chrom.aberration/normalspermcount). 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