ABCMdb

PMID: 23953609

Lu S, Yang X, Cui Y, Li X, Zhang H, Liu J, Chen ZJ
Different cystic fibrosis transmembrane conductance regulator mutations in Chinese men with congenital bilateral absence of vas deferens and other acquired obstructive azoospermia.
Urology. 2013 Oct;82(4):824-8. doi: 10.1016/j.urology.2013.06.024. Epub 2013 Aug 14., [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Met469Val ABCC7 p.Ser485Cys ABCC7 p.Glu527Asn RESULTS Six heterozygous mutations (&#fe;/), I556V, M469V, E527N, F508del, S485C, and I558S, were found in 30 patients, and 1 homozygous mutation (&#fe;/&#fe;), I556V, was found in 1 patient. Login to comment 9 ABCC7 p.Ile556Val Of these mutations, I556V was the most common type with 24 of 31 (77.4%). Login to comment 10 ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Met469Val ABCC7 p.Ser485Cys ABCC7 p.Glu527Asn In CBAVD group, 20 of 158 patients were identified with 6 different heterozygous mutations (I556V, M469V, E527N, F508del, S485C, and I558S) and 1 homozygous mutation (I556V). Login to comment 12 ABCC7 p.Ile556Val ABCC7 p.Met469Val In acquired obstructive group, 11 of 243 patients were identified with 2 different heterozygous mutations, I556V and M469V; the rate of mutations was 4.5%. Login to comment 17 ABCC7 p.Ile556Val I556V is the major common type of CFTR mutations in Chinese patients with CBAVD. Login to comment 50 ABCC7 p.Ile556Val (B) I556V mutation is indicated by arrow. Login to comment 51 ABCC7 p.Met469Val (C) M469V mutation is indicated by arrow. Login to comment 53 ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Met469Val ABCC7 p.Ser485Cys ABCC7 p.Glu527Asn detected in 31 patients, including 30 cases of 6 different heterozygous mutations (I556V, M469V, E527N, F508del, S485C, and I558S) as positive for only 1 mutation (&#fe;/), and 1 case of homozygous mutations (I556V); the rate of CFTR mutations was 7.7%. Login to comment 54 ABCC7 p.Ile556Val Of these mutations, I556V was the most common type with 24 of 31 (77.4%). Login to comment 55 ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Met469Val ABCC7 p.Ser485Cys ABCC7 p.Glu527Asn In CBAVD patients, 20 of 158 patients were identified with 6 different CFTR mutations, including 19 cases of 6 different heterozygous mutations (I556V, M469V, E527N, F508del, S485C, and I558S), 1 case of homozygous mutations (I556V); the rate of CFTR mutations was 12.7%. Login to comment 56 ABCC7 p.Ile556Val ABCC7 p.Met469Val In other obstructive azoospermia group, 2 different heterozygous CFTR mutations were identified in 11 of 243 patients, including 10 patients of I556V mutations and 1 of M469V mutations. Login to comment 66 ABCC7 p.Leu558Ser ABCC7 p.Ile556Val ABCC7 p.Met469Val ABCC7 p.Ser485Cys ABCC7 p.Glu527Asn Frequency of different mutations types in 31 male patients Mutations Type Frequency I556V 24/31 (77.4%) M469V 3/31 (9.7%) E527N 1/31 (3.2%) F508del 1/31 (3.2%) L558S 1/31 (3.2%) S485C 1/31 (3.2%) Table 1. Login to comment 67 ABCC7 p.Leu558Ser ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Met469Val ABCC7 p.Met469Val ABCC7 p.Met469Val ABCC7 p.Ser485Cys ABCC7 p.Glu527Asn Cystic fibrosis transmembrane conductance regulator gene mutations in 31 male patients Patient Number Age (y) Diagnosis Mutation Locus Mutation Alleles Change of Nucleotide Change of Amino Acid Chromosome 1 27 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 2 30 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 3 25 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 4 25 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 5 28 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 6 28 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 7 25 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 8 30 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 9 26 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 10 28 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 11 29 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 12 30 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 13 23 CBAVD I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 14 31 CBAVD I556V Homo (&#fe;/&#fe;) AA/AG Ile (ATT) to Val (GTT) 46XY 15 27 CBAVD M469V Hetero (&#fe;/) AA/AG Met (ATG) to Val (GTG) 46XY 16 27 CBAVD M469V Hetero (&#fe;/) AA/AG Met (ATG) to Val (GTG) 46XY 17 29 CBAVD E527N Hetero (&#fe;/) GG/AG Glu (GAA) to Lys (AAA) 46XY 18 33 CBAVD F508del Hetero (&#fe;/) Del TCT Deletion of Phe at 508 46XY 19 26 CBAVD L558S Hetero (&#fe;/) TT/TC Leu (TTA) to Ser (TCA) 46XY 20 35 CBAVD S485C Hetero (&#fe;/) AA/AT Ser (AGT) to Cys (TGT) 46XY 21 25 ObsA I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 22 32 ObsA I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 23 29 ObsA I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 24 25 ObsA I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 25 30 ObsA I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 26 25 ObsA I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 27 37 ObsA I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 28 29 ObsA I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 29 23 ObsA I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 30 27 ObsA I556V Hetero (&#fe;/) AA/AG Ile (ATT) to Val (GTT) 46XY 31 27 ObsA M469V Hetero (&#fe;/) AA/AG Met (ATG) to Val (GTG) 46XY CBAVD, congenital bilateral absence of vas deferens; hetero, heterozygous; homo, homozygous; ObsA, obstructive azoospermia. Login to comment 70 ABCC7 p.Gly551Asp ABCC7 p.Arg553* ABCC7 p.Gly542* ABCC7 p.Arg560Thr In this study, we analyzed exons 10 and 11 CFTR gene in CBAVD and other acquired obstructive azoospermia because common mutations such as F508del, D507, G551D, G542X, R560T, and R553X associated with CF in Caucasians were frequently identified in these exons. Login to comment 72 ABCC7 p.Ile556Val Of these mutations, approximately 24 of 31 (77.4%) mutations were I556V, including 23 of heterozygous mutations and 1 of homozygous mutation. Login to comment 75 ABCC7 p.Ile556Val I556V, other than F508del, might be the major mutation in Chinese patients. Login to comment 76 ABCC7 p.Ile556Val Besides 1 I556V homozygous mutation observed, all other mutations were heterozygous mutations; they might be in correspondence with the clinical feature in these patients with CBAVD, which had no other CF syndrome such as lung or pancreatic diseases. Login to comment 79 ABCC7 p.Ile556Val ABCC7 p.Ile556Val ABCC7 p.Met469Val Such mutations would produce abnormally low levels of CFTR protein, which may cause obstruction of the vas deferens, but there may be sufficient protein to prevent from disease in other organs normally affected by CF.18 I556V found in the present cases is a mutation initially reported in a French man who had asthma-like bronchopathy and chronic diarrhea, which was recently identified in 10%-15% of Asians irrespective of chronic respiratory diseases.19 Because the I556V and M469V heterozygous mutations were all founded in CBAVD and obstructive azoospermia groups, they might not be special mutations for CBAVD. Login to comment 81 ABCC7 p.Ile556Val I556V is the major common type of CFTR mutations in Chinese patients with CBAVD. Login to comment