ABCMdb

PMID: 7573058

Zielenski J, Patrizio P, Corey M, Handelin B, Markiewicz D, Asch R, Tsui LC
CFTR gene variant for patients with congenital absence of vas deferens.
Am J Hum Genet. 1995 Oct;57(4):958-60., [PubMed]

Sentences

No. Mutations Sentence Comment

20 ABCC7 p.Arg117His The effect of this T-tract polymorphism in CFTR gene expression is also documented by its relationship with a known CF mutation R117H (Dean et al. 1990): While R117H(5T) is found in typical CF patients with pancreatic sufficiency, R117H(7T) is associated with CBAVD (Kiesewetter et al. 1993). Login to comment 21 ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Asp1152His ABCC7 p.Arg117Cys ABCC7 p.Ser50Tyr More recently, CFTR alleles Letters to the Editor Table I CFTR Mutations Detected in the CBAVD Patients Number of Percentage Genotype Patients of Total AF508 IVS8/ST 16 W1282X IVS8/5T 9 AF508 R117H(7T) 4 N1303K IVS8/5T 2 IVS8/ST IVS8/5T 2 AF508 R117C 1 AF508 D1152H 1............ 1 58.6 AF508 S50Y 1 R553X R117H(7T) 1 R117H(7T) R117H(7T) 1 G542X IVS8/5T 1 1717-1G-+A IVS8/ST 1 1525-1G-A IVS8/5T 1 IVS8/5T Unknown 4 AF508 Unknown 4. Login to comment 22 ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Ser549Asn ABCC7 p.Arg560Thr ABCC7 p.Asp614Gly W1282X Unknown 2 R553X Unknown ............ 20.0 4173delC Unknown1 1 D614G Unknown 1 1716+12T- C Unknown 1 J Unknown Unknown ............ .15 21.4 NOTE.-The known CFTR mutations screened included AF508, G542X, GSS1D, N1303K, R553X, W1282X, AI507, 1717-1G-A, R560T, S549N, 621+1G--T, and R117H. Login to comment 52 ABCC7 p.Arg117His Lancet 336:512 Gervais R. Dumur V, Rigot J-M, Lafitte J-J, Roussel P, Claustres M, Demaille J (1993) High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of vas deferens. N Engl J Med 328:446-447 Holsclaw DS, Perlmutter AD, Jockin H, Schwachman H (1971) Genital abnormalities in male patients with cystic fibrosis. Login to comment 64 ABCC7 p.Ser50Tyr Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with the congenital bilateral absence of vas deferens (CBAVD). Login to comment