ABCMdb

PMID: 7539448

Le Lannou D, Jezequel P, Blayau M, Dorval I, Lemoine P, Dabadie A, Roussey M, Le Marec B, Legall JY
Obstructive azoospermia with agenesis of vas deferens or with bronchiectasia (Young's syndrome): a genetic approach.
Hum Reprod. 1995 Feb;10(2):338-41., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCC7 p.Arg117His The AF508 mutation occurred most frequently (54%), and the second most frequent mutation to occur was R117H (27%). Login to comment 42 ABCC7 p.Arg117His The details of the genotype screening for these 20 patients as well as the other six CAVD patients are summarized in Table I. The AF508 mutation occurred the most frequently (54%), with R117H being the second most frequent (27%). Login to comment 43 ABCC7 p.Arg117His ABCC7 p.Arg1070Trp ABCC7 p.Ala1067Val Six patients were double heterozygotes: AF508/R117H (three cases), AF508/ R1070W (two cases), AF508/A1067V (one case). Login to comment 50 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg1070Trp ABCC7 p.Arg1070Trp ABCC7 p.Ala1067Val 1 z 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 Details of cystic fibrosis (CF) mutations identified congenital agenesis of vas deferens CF mutation AF5O8/ AF508/ AF508/ AF508/ AF508/ AF5O8/A1067V AF5O8/ AF508/R1070W R117H/ AF508/R1070W - AF508/ R117H/ 621 + 1 G->T7 AF508/RU7H R117H/ AF508/R117H AF5O8/ - AF508/R117H G551D/ R117H/ Respiratory disease - - asthma bronchiectasia - - asthma - - - - rhinitis - - - - - asthma - - in all patients with Sweat tests (mmol/ml of chloride) 72a 42 31 64a 24 - 30 39 17 - 6 - 36 11 31 24 - - 7 52 - - Patients with two results >60 mmol/ml were considered positive. Login to comment 71 ABCC7 p.Arg117His ABCC7 p.Arg1070Trp an incomplete clinical form of CF. However, if AF508 is excluded, the most frequent mutations in the CAVD group (R117H and R1070W) were not observed in a group of 108 CF patients in a separate study, and these mutations seemed to be specific to CAVD. Login to comment 72 ABCC7 p.Asn1303Lys On the other hand, other mutations frequently noted in our CF group, such as N1303K or 3272- 26G -A, were not observed in the CAVD group. Login to comment